ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.2771C>G (p.Ser924Cys)

dbSNP: rs2514077832
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004447179 SCV004945826 uncertain significance Inborn genetic diseases 2024-02-06 criteria provided, single submitter clinical testing The c.2771C>G (p.S924C) alteration is located in exon 22 (coding exon 22) of the RYR1 gene. This alteration results from a C to G substitution at nucleotide position 2771, causing the serine (S) at amino acid position 924 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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