ClinVar Miner

Submissions for variant NM_001036.6(RYR3):c.5834C>T (p.Pro1945Leu)

gnomAD frequency: 0.00006  dbSNP: rs375210672
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000637078 SCV000758526 uncertain significance Epileptic encephalopathy 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 1945 of the RYR3 protein (p.Pro1945Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs375210672, ExAC 0.003%). This variant has not been reported in the literature in individuals affected with RYR3-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV004025493 SCV003563894 uncertain significance not specified 2021-06-21 criteria provided, single submitter clinical testing The c.5834C>T (p.P1945L) alteration is located in exon 38 (coding exon 38) of the RYR3 gene. This alteration results from a C to T substitution at nucleotide position 5834, causing the proline (P) at amino acid position 1945 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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