ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2827G>A (p.Val943Met)

gnomAD frequency: 0.00004  dbSNP: rs782008236
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000598505 SCV000703593 uncertain significance not provided 2016-12-06 criteria provided, single submitter clinical testing
GeneDx RCV000598505 SCV001793826 uncertain significance not provided 2020-03-25 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV000598505 SCV004643455 uncertain significance not provided 2023-07-21 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 498537). 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. 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 expected to disrupt MYO7A protein function. This variant has not been reported in the literature in individuals affected with MYO7A-related conditions. This variant is present in population databases (rs782008236, gnomAD 0.01%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 943 of the MYO7A protein (p.Val943Met).

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