ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.7130T>G (p.Leu2377Arg)

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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 RCV004962615 SCV005496914 uncertain significance Inborn genetic diseases 2024-09-04 criteria provided, single submitter clinical testing The c.7130T>G (p.L2377R) alteration is located in exon 44 (coding exon 44) of the RYR1 gene. This alteration results from a T to G substitution at nucleotide position 7130, causing the leucine (L) at amino acid position 2377 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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