NM_000260.4(MYO7A):c.635G>A (p.Arg212His) AND Usher syndrome type 1B

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Feb 24, 2021
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000012624.33

Allele description [Variation Report for NM_000260.4(MYO7A):c.635G>A (p.Arg212His)]

NM_000260.4(MYO7A):c.635G>A (p.Arg212His)

Gene:

MYO7A:myosin VIIA [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.5

Genomic location:

Preferred name:

NM_000260.4(MYO7A):c.635G>A (p.Arg212His)

HGVS:

NC_000011.10:g.77156904G>A
NG_009086.2:g.33659G>A
NM_000260.4:c.635G>AMANE SELECT
NM_001127180.2:c.635G>A
NM_001369365.1:c.602G>A
NP_000251.3:p.Arg212His
NP_001120652.1:p.Arg212His
NP_001356294.1:p.Arg201His
LRG_1420t1:c.635G>A
LRG_1420:g.33659G>A
LRG_1420p1:p.Arg212His
NC_000011.9:g.76867950G>A
NG_009086.1:g.33641G>A
NM_000260.3:c.635G>A
Q13402:p.Arg212His
c.635G>A

Protein change:

R201H; ARG212HIS

Links:

UniProtKB: Q13402#VAR_009319; OMIM: 276903.0004; dbSNP: rs28934610

NCBI 1000 Genomes Browser:

rs28934610

Molecular consequence:

NM_000260.4:c.635G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127180.2:c.635G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001369365.1:c.602G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Usher syndrome type 1B (USH1B)
Synonyms:: Usher syndrome type IB
Identifiers:: MONDO: MONDO:0700087; MedGen: C2931206

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000032859	OMIM	no assertion criteria provided	Pathogenic (Nov 1, 1996)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 7568224, 8900236
SCV002093125	Natera, Inc.	no assertion criteria provided	Pathogenic (Feb 24, 2021)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000032859

OMIM

no assertion criteria provided

Pathogenic
(Nov 1, 1996)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

SCV002093125

Natera, Inc.

no assertion criteria provided

Pathogenic
(Feb 24, 2021)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B.

Hasson T, Heintzelman MB, Santos-Sacchi J, Corey DP, Mooseker MS.

Proc Natl Acad Sci U S A. 1995 Oct 10;92(21):9815-9.

PubMed [citation]

PMID:: 7568224
PMCID:: PMC40893

Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.

Weston MD, Kelley PM, Overbeck LD, Wagenaar M, Orten DJ, Hasson T, Chen ZY, Corey D, Mooseker M, Sumegi J, Cremers C, Moller C, Jacobson SG, Gorin MB, Kimberling WJ.

Am J Hum Genet. 1996 Nov;59(5):1074-83.

PubMed [citation]

PMID:: 8900236
PMCID:: PMC1914835

Details of each submission

From OMIM, SCV000032859.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In individuals with Usher syndrome type IB (USH1B; 276900), Weil et al. (1995) identified a G-to-A transition in exon 7 of the MYO7A gene, resulting in an arg212-to-his (R212H) substitution.

Weston et al. (1996) stated that R212H and R212C (276903.0005) accounted for 8 of 23 mutant alleles from 20 probands in their study of USH1B. On 3 alleles (once in heterozygosity and once in homozygosity), the R212H mutation occurred in cis with an R302H (276903.0006) mutation in exon 9. Affected sibs in a Dutch family were homozygous for the double mutation at both codons, while the affected sibs in a Finnish family showed only paternal inheritance of both mutations. Both R302H and R212H were observed singly in affected persons; neither had been observed in controls, either singly or as double mutations. Although these 3 mutations were the most common ones observed, comprising approximately 50% of all mutations found, they still represented less than 3% of the total USH1B chromosomes studied. Furthermore, no linkage disequilibrium between USH1B and several adjacent polymorphic markers was found, suggesting that there are several independently occurring mutations rather than a common USH1B allele.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Natera, Inc., SCV002093125.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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