ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4807G>C (p.Ala1603Pro) (rs730880809)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000551132 SCV000623723 likely pathogenic Hypertrophic cardiomyopathy 2017-12-20 criteria provided, single submitter clinical testing This sequence change replaces alanine with proline at codon 1603 of the MYH7 protein (p.Ala1603Pro). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been reported in several individuals and families affected with distal myopathy (PMID: 27387980, 24664454, Invitae) and in an individual affected with congenital myopathy (PMID: 25214167). ClinVar contains an entry for this variant (Variation ID: 190407). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
GeneReviews RCV000192209 SCV000223120 pathogenic Myopathy, distal, 1 2015-03-12 no assertion criteria provided literature only

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