ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.758C>T (p.Thr253Ile)

dbSNP: rs780783336
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001050008 SCV001214094 uncertain significance Hereditary pancreatitis 2019-02-24 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with CTRC-related conditions. This variant is present in population databases (rs780783336, ExAC 0.006%). This sequence change replaces threonine with isoleucine at codon 253 of the CTRC protein (p.Thr253Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine.

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