NM_000260.4(MYO7A):c.1940del (p.Phe647fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 27, 2023
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV001226547.6

Allele description [Variation Report for NM_000260.4(MYO7A):c.1940del (p.Phe647fs)]

NM_000260.4(MYO7A):c.1940del (p.Phe647fs)

Gene:

MYO7A:myosin VIIA [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

11q13.5

Genomic location:

Preferred name:

NM_000260.4(MYO7A):c.1940del (p.Phe647fs)

HGVS:

NC_000011.10:g.77174760del
NG_009086.2:g.51515del
NM_000260.4:c.1940delMANE SELECT
NM_001127180.2:c.1940del
NM_001369365.1:c.1907del
NP_000251.3:p.Phe647fs
NP_001120652.1:p.Phe647fs
NP_001356294.1:p.Phe636fs
LRG_1420t1:c.1940del
LRG_1420:g.51515del
LRG_1420p1:p.Phe647fs
NC_000011.9:g.76885805del
NC_000011.9:g.76885806del
NG_009086.1:g.51497del
NM_000260.3:c.1940del

Protein change:

F636fs

Links:

dbSNP: rs1555078815

NCBI 1000 Genomes Browser:

rs1555078815

Molecular consequence:

NM_000260.4:c.1940del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001127180.2:c.1940del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369365.1:c.1907del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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myoglobin, partial [Elachura formosa]
myoglobin, partial [Elachura formosa]
gi|602219799|gb|AHN92473.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001398866	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Apr 27, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 8900236, 25404053, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001398866

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Apr 27, 2023)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

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

Citations

PubMed

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

Targeted next generation sequencing for molecular diagnosis of Usher syndrome.

Aparisi MJ, Aller E, Fuster-García C, García-García G, Rodrigo R, Vázquez-Manrique RP, Blanco-Kelly F, Ayuso C, Roux AF, Jaijo T, Millán JM.

Orphanet J Rare Dis. 2014 Nov 18;9:168. doi: 10.1186/s13023-014-0168-7.

PubMed [citation]

PMID:: 25404053
PMCID:: PMC4245769

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001398866.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 954142). This variant has not been reported in the literature in individuals affected with MYO7A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Phe647Serfs*15) in the MYO7A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MYO7A are known to be pathogenic (PMID: 8900236, 25404053).

#	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: Sep 29, 2024

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