ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.6355G>A (p.Ala2119Thr)

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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 RCV002747759 SCV003570838 uncertain significance Inborn genetic diseases 2021-08-09 criteria provided, single submitter clinical testing The c.6355G>A (p.A2119T) alteration is located in exon 39 (coding exon 39) of the RYR1 gene. This alteration results from a G to A substitution at nucleotide position 6355, causing the alanine (A) at amino acid position 2119 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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