ClinVar Miner

Submissions for variant NM_001377458.1(CLCC1):c.740T>C (p.Met247Thr)

gnomAD frequency: 0.00008  dbSNP: rs147591789
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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 RCV001235374 SCV001408056 uncertain significance not provided 2023-08-17 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 961644). 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 disruptive. This missense change has been observed in individual(s) with retinitis pigmentosa (Invitae). This variant is present in population databases (rs147591789, gnomAD 0.02%). This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 247 of the CLCC1 protein (p.Met247Thr).

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