ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn)

gnomAD frequency: 0.00006  dbSNP: rs755934966
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666616 SCV000790936 likely pathogenic Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2017-04-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000763284 SCV000893928 pathogenic Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001239645 SCV001412534 pathogenic not provided 2023-11-02 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 2010 of the MYO7A protein (p.Asp2010Asn). 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 individual(s) with Usher syndrome (PMID: 19074810, 24618850, 27729122). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 551533). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on MYO7A protein function. For these reasons, this variant has been classified as Pathogenic.
Kariminejad - Najmabadi Pathology & Genetics Center RCV001239645 SCV001755675 likely pathogenic not provided 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001239645 SCV003840309 pathogenic not provided 2023-03-02 criteria provided, single submitter clinical testing 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: 27610647, 33363762, 21873662, 19074810, 24618850, 32219829, 27729122, 31479088)
Natera, Inc. RCV001835077 SCV002088532 pathogenic Usher syndrome type 1B 2020-04-27 no assertion criteria provided clinical testing

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