ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5123G>A (p.Arg1708His)

gnomAD frequency: 0.00001  dbSNP: rs1241956038
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329742 SCV001521263 uncertain significance Autosomal recessive nonsyndromic hearing loss 2 2019-08-08 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV002462937 SCV002756479 uncertain significance not provided 2022-05-19 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002462937 SCV003466229 uncertain significance not provided 2021-09-17 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 1708 of the MYO7A protein (p.Arg1708His). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and histidine. This variant is not present in population databases (ExAC no frequency). 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: 1028646). 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 not expected to disrupt 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.

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