ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.13577C>T (p.Ala4526Val)

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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 RCV004968687 SCV005496917 uncertain significance Inborn genetic diseases 2024-09-30 criteria provided, single submitter clinical testing The c.13577C>T (p.A4526V) alteration is located in exon 93 (coding exon 93) of the RYR1 gene. This alteration results from a C to T substitution at nucleotide position 13577, causing the alanine (A) at amino acid position 4526 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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