ClinVar Miner

Submissions for variant NM_001036.6(RYR3):c.1994T>C (p.Ile665Thr)

gnomAD frequency: 0.00001  dbSNP: rs780056230
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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 RCV000688786 SCV000816410 uncertain significance Epileptic encephalopathy 2023-07-07 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 568428). This variant has not been reported in the literature in individuals affected with RYR3-related conditions. This variant is present in population databases (rs780056230, gnomAD 0.04%). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 665 of the RYR3 protein (p.Ile665Thr).
Ambry Genetics RCV004659167 SCV005158875 uncertain significance not specified 2024-06-22 criteria provided, single submitter clinical testing The c.1994T>C (p.I665T) alteration is located in exon 18 (coding exon 18) of the RYR3 gene. This alteration results from a T to C substitution at nucleotide position 1994, causing the isoleucine (I) at amino acid position 665 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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