ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4484T>C (p.Leu1495Pro) (rs1566525081)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000706210 SCV000835249 uncertain significance Hypertrophic cardiomyopathy 2018-07-03 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 1495 of the MYH7 protein (p.Leu1495Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MYH7-related disease. An algorithm developed specifically for the MYH7 gene suggests that this missense change is likely to be deleterious (PMID: 21310275). However, this prediction has not been confirmed by published functional studies and its clinical significance is uncertain. 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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