Submissions for variant NM_000260.4(MYO7A):c.5824G>A (p.Gly1942Arg)

dbSNP: rs111033192

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036204	SCV000059856	uncertain significance	not specified	2008-03-01	criteria provided, single submitter	clinical testing
Counsyl	RCV000671433	SCV000796409	uncertain significance	Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1	2017-12-14	criteria provided, single submitter	clinical testing
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill	RCV004545738	SCV001251512	uncertain significance	MYO7A-related disorder		criteria provided, single submitter	research	MYO7A c.5824G>A (p.G1942R) missense variant has been reported in one family with autosomal recessive nonsyndromic deafness (PMID: 21117948). This variant has also been reported in the compound heterozygous state in one individual with Usher syndrome (PMID: 27460420).
CeGaT Center for Human Genetics Tuebingen	RCV001531119	SCV001746095	likely pathogenic	not provided	2021-03-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001531119	SCV001985485	uncertain significance	not provided	2022-12-20	criteria provided, single submitter	clinical testing	Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25525159, 27460420, 30245029, 21117948, 32853555, 33671976)
Labcorp Genetics (formerly Invitae), Labcorp	RCV001531119	SCV003440359	likely pathogenic	not provided	2024-02-14	criteria provided, single submitter	clinical testing	This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1942 of the MYO7A protein (p.Gly1942Arg). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individuals with autosomal recessive deafness and/or autosomal recessive Usher syndrome (PMID: 21117948, 27460420, 32853555). ClinVar contains an entry for this variant (Variation ID: 43299). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt MYO7A protein function with a positive predictive value of 95%. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Revvity Omics, Revvity	RCV001531119	SCV003817856	uncertain significance	not provided	2019-02-27	criteria provided, single submitter	clinical testing
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation	RCV003389444	SCV003927060	pathogenic	Usher syndrome	2022-12-31	criteria provided, single submitter	research
Fulgent Genetics, Fulgent Genetics	RCV005007947	SCV005629480	likely pathogenic	Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1	2024-04-05	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001826554	SCV002088523	uncertain significance	Usher syndrome type 1B	2020-07-08	no assertion criteria provided	clinical testing