ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.9764G>T (p.Gly3255Val)

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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 RCV003199999 SCV003897346 uncertain significance Inborn genetic diseases 2023-02-15 criteria provided, single submitter clinical testing The c.9764G>T (p.G3255V) alteration is located in exon 66 (coding exon 66) of the RYR1 gene. This alteration results from a G to T substitution at nucleotide position 9764, causing the glycine (G) at amino acid position 3255 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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