ClinVar Miner

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

dbSNP: 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 2023-04-16 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt MYH7 protein function. ClinVar contains an entry for this variant (Variation ID: 582203). This missense change has been observed in individual(s) with congenital myopathy (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 1495 of the MYH7 protein (p.Leu1495Pro).

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