ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.13741T>A (p.Tyr4581Asn)

dbSNP: rs2145865421
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002029213 SCV002301561 uncertain significance RYR1-related disorder 2022-06-20 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with clinical features of autosomal dominant RYR1-related congenital myopathy (Invitae). This sequence change replaces tyrosine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 4581 of the RYR1 protein (p.Tyr4581Asn). This variant is not present in population databases (gnomAD no frequency). 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 RYR1 protein function. 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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