ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.5317C>T (p.Pro1773Ser) (rs192863857)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000209980 SCV000265709 uncertain significance Malignant hyperthermia, susceptibility to, 1 2013-07-01 criteria provided, single submitter research
GeneDx RCV000766302 SCV000617090 uncertain significance not provided 2017-10-23 criteria provided, single submitter clinical testing The P1773S variant has been reported in an individual who did not have a personal or family history of an RYR1-related disorder (Gonsalves et al., 2013). The P1773S variant is observed in 272/18,786 (1.4%) alleles from individuals of East Asian background, which is greater than expected for this disorder (Lek et al., 2016). However, this variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function.
Illumina Clinical Services Laboratory,Illumina RCV000349427 SCV000412233 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000400180 SCV000412234 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000314530 SCV000412235 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000362258 SCV000412236 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000241839 SCV000304958 benign not specified 2016-04-25 criteria provided, single submitter clinical testing

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