U.S. flag

An official website of the United States government

NM_000260.4(MYO7A):c.1817G>A (p.Arg606His) AND Nonsyndromic genetic hearing loss

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 19, 2023
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
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:
RCV000710344.3

Allele description [Variation Report for NM_000260.4(MYO7A):c.1817G>A (p.Arg606His)]

NM_000260.4(MYO7A):c.1817G>A (p.Arg606His)

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.1817G>A (p.Arg606His)
Other names:
NM_000260.3(MYO7A):c.1817G>A(p.Arg606His); NM_000260.3(MYO7A):c.1817G>A; p.Arg606His; NM_000260.4(MYO7A):c.1817G>A
HGVS:
  • NC_000011.10:g.77172767G>A
  • NG_009086.2:g.49522G>A
  • NM_000260.4:c.1817G>AMANE SELECT
  • NM_001127180.2:c.1817G>A
  • NM_001369365.1:c.1784G>A
  • NP_000251.3:p.Arg606His
  • NP_001120652.1:p.Arg606His
  • NP_001356294.1:p.Arg595His
  • LRG_1420t1:c.1817G>A
  • LRG_1420:g.49522G>A
  • LRG_1420p1:p.Arg606His
  • NC_000011.9:g.76883813G>A
  • NG_009086.1:g.49504G>A
  • NM_000260.3:c.1817G>A
Protein change:
R595H
Links:
dbSNP: rs782311929
NCBI 1000 Genomes Browser:
rs782311929
Molecular consequence:
  • NM_000260.4:c.1817G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127180.2:c.1817G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369365.1:c.1784G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Nonsyndromic genetic hearing loss
Synonyms:
Nonsyndromic hearing loss and deafness; Non-syndromic genetic deafness; Nonsyndromic genetic deafness
Identifiers:
MONDO: MONDO:0019497; MedGen: C5680182; Orphanet: 87884

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000840541ClinGen Hearing Loss Variant Curation Expert Panel
reviewed by expert panel

(Clingen Hl Acmg Specifications Cdh23 Coch Gjb2 Kcnq4 Myo6 Myo7a Slc26a4 Tecta Ush2a V2)		Uncertain significance
(Jul 19, 2023) 		germlinecuration

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Details of each submission

From ClinGen Hearing Loss Variant Curation Expert Panel, SCV000840541.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

The c.1817 G>A (NM_000260.4(MYO7A):c.1817G>A (p.Arg606His)) variant in MYO7A is a missense variant predicted to cause substitution of Arginine by Histidine at amino acid 606. The highest major allele frequency in gnomAD v2.1.1 is 0.00035 (0.035 % or 8/23092 alleles) in the South Asian population (PM2_supporting, BS1, and BA1 not met). The computational predictor REVEL gives a score of 0.832, (which is above the threshold of 0.7), evidence that correlates with impact to MYO7A function (PP3). This variant has been detected in at least one individual with autosomal recessive nonsyndromic genetic hearing loss. This proband was compound heterozygous for the variant and a pathogenic variant, confirmed in trans by parental testing (PM3; 1.0 point; LMM Internal Data). The patient with this variant displayed moderate to severe sensorineural hearing loss, although no vision anomalies or difficulty seeing at night were noted (PP4 not met; LMM Internal Data). In summary, this variant meets the criteria to be classified as uncertain significance for autosomal recessive nonsyndromic genetic deafness, based on the ACMG/AMP criteria applied, as specified by the ClinGen Hearing Loss VCEP: (PP3, PM3; Version 2, 7.19.2023).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024