ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.4710C>T (p.Asn1570=)

gnomAD frequency: 0.00002  dbSNP: rs763113534
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000655694 SCV000777625 likely benign RYR1-related disorder 2024-10-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000658831 SCV000780627 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing RYR1: BP4, BP7
Revvity Omics, Revvity RCV000658831 SCV003812531 uncertain significance not provided 2019-12-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003403512 SCV004122846 uncertain significance not specified 2023-10-13 criteria provided, single submitter clinical testing Variant summary: RYR1 c.4710C>T (p.Asn1570Asn) alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 2.4e-05 in 167490 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.4710C>T in individuals affected with Myopathy, RYR1-Associated and no experimental evidence demonstrating its impact on protein function have been reported. Three submitters have cited clinical-significance assessments for this variant to ClinVar after 2014 and classified as likely benign (n=2) and VUS (n=1). Based on the evidence outlined above, the variant was classified as uncertain significance.

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