ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4648T>C (p.Ser1550Pro) (rs1555336492)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000628914 SCV000749822 likely pathogenic Hypertrophic cardiomyopathy 2017-11-27 criteria provided, single submitter clinical testing This sequence change replaces serine with proline at codon 1550 of the MYH7 protein (p.Ser1550Pro). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been reported to be de novo in individuals affected with myopathy (Invitae). 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.

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