ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.4307G>A (p.Arg1436Gln)

gnomAD frequency: 0.00001  dbSNP: rs773527189
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507375 SCV000604358 uncertain significance not specified 2016-12-06 criteria provided, single submitter clinical testing
Invitae RCV003766881 SCV004631729 uncertain significance not provided 2023-10-03 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 1395 of the MYH14 protein (p.Arg1395Gln). This variant is present in population databases (rs773527189, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with MYH14-related conditions. ClinVar contains an entry for this variant (Variation ID: 439934). 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 MYH14 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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