ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.6191T>C (p.Met2064Thr)

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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 RCV004674398 SCV005158768 uncertain significance Inborn genetic diseases 2024-04-09 criteria provided, single submitter clinical testing The c.6191T>C (p.M2064T) alteration is located in exon 38 (coding exon 38) of the RYR1 gene. This alteration results from a T to C substitution at nucleotide position 6191, causing the methionine (M) at amino acid position 2064 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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