ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.4990C>T (p.His1664Tyr)

gnomAD frequency: 0.00002  dbSNP: rs1426611590
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV004012136 SCV004827199 uncertain significance Malignant hyperthermia, susceptibility to, 1 2023-08-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004968582 SCV005496911 uncertain significance Inborn genetic diseases 2024-08-27 criteria provided, single submitter clinical testing The c.4990C>T (p.H1664Y) alteration is located in exon 34 (coding exon 34) of the RYR1 gene. This alteration results from a C to T substitution at nucleotide position 4990, causing the histidine (H) at amino acid position 1664 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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