ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.2653C>G (p.Pro885Ala) (rs764303814)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000472359 SCV000550858 uncertain significance Hypertrophic cardiomyopathy 2016-10-04 criteria provided, single submitter clinical testing This sequence change replaces proline with alanine at codon 885 of the MYOM1 protein (p.Pro885Ala). The proline residue is weakly conserved and there is a small physicochemical difference between proline and alanine. The frequency data for this variant (rs764303814) in the population databases is unreliable, as metrics indicate poor quality at this position in the ExAC database. This variant has not been reported in the literature in an individual with a MYOM1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant is a rare missense change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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