ClinVar Miner

Submissions for variant NM_002473.6(MYH9):c.4340A>G (p.Asp1447Gly)

dbSNP: rs797044804
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851788 SCV000899739 likely pathogenic MYH9-related disorder 2019-02-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001855730 SCV002179409 uncertain significance not provided 2021-04-29 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. This variant disrupts the p.Asp1447 amino acid residue in MYH9. Other variant(s) that disrupt this residue have been observed in individuals with MYH9-related conditions (PMID: 23123319, 18676005), which suggests that this may be a clinically significant amino acid residue. This variant has been observed in individual(s) with MYH9-related conditions (PMID: 16978745, 25077172, 31064749). ClinVar contains an entry for this variant (Variation ID: 627067). This variant is not present in population databases (ExAC no frequency). This sequence change replaces aspartic acid with glycine at codon 1447 of the MYH9 protein (p.Asp1447Gly). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and glycine.

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