ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3437G>A (p.Arg1146Gln)

gnomAD frequency: 0.00001  dbSNP: rs782140421
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673623 SCV000798848 uncertain significance Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2018-03-27 criteria provided, single submitter clinical testing
Invitae RCV001317095 SCV001507742 uncertain significance not provided 2022-10-08 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1146 of the MYO7A protein (p.Arg1146Gln). 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: 27460420). ClinVar contains an entry for this variant (Variation ID: 557475). 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. RCV001829882 SCV002086667 uncertain significance Usher syndrome type 1B 2021-08-19 no assertion criteria provided clinical testing

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