ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.439C>T (p.Arg147Cys)

gnomAD frequency: 0.00001  dbSNP: rs782808261
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000626134 SCV000746764 likely pathogenic Autosomal dominant nonsyndromic hearing loss 11 2017-12-18 criteria provided, single submitter clinical testing
Invitae RCV001350027 SCV001544399 uncertain significance not provided 2022-10-19 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 147 of the MYO7A protein (p.Arg147Cys). This variant is present in population databases (rs782808261, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with MYO7A-related conditions. ClinVar contains an entry for this variant (Variation ID: 522937). 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. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001834981 SCV002093115 uncertain significance Usher syndrome type 1B 2020-11-19 no assertion criteria provided clinical testing

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