ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.6026C>A (p.Ala2009Asp)

gnomAD frequency: 0.00001  dbSNP: rs1173853484
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988617 SCV001138396 uncertain significance Autosomal recessive nonsyndromic hearing loss 2 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001060649 SCV001225353 pathogenic not provided 2024-12-02 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 2009 of the MYO7A protein (p.Ala2009Asp). This variant is present in population databases (no rsID available, gnomAD 0.06%). This missense change has been observed in individuals with clinical features of Usher syndrome (internal data). ClinVar contains an entry for this variant (Variation ID: 802709). Invitae Evidence 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 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. This variant disrupts the p.Ala2009 amino acid residue in MYO7A. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 26226137, 27460420, 33089500; internal data). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV001272820 SCV001455186 uncertain significance Usher syndrome type 1B 2020-04-17 no assertion criteria provided clinical testing

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