ClinVar Miner

Submissions for variant NM_006431.3(CCT2):c.526A>C (p.Lys176Gln)

gnomAD frequency: 0.00002  dbSNP: rs377377290
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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 RCV001909524 SCV002182586 uncertain significance not provided 2023-07-25 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: 1408485). This variant has not been reported in the literature in individuals affected with CCT2-related conditions. This variant is present in population databases (rs377377290, gnomAD 0.01%). This sequence change replaces lysine, which is basic and polar, with glutamine, which is neutral and polar, at codon 176 of the CCT2 protein (p.Lys176Gln).
Ambry Genetics RCV004042790 SCV003873646 uncertain significance not specified 2023-02-28 criteria provided, single submitter clinical testing The c.526A>C (p.K176Q) alteration is located in exon 7 (coding exon 7) of the CCT2 gene. This alteration results from a A to C substitution at nucleotide position 526, causing the lysine (K) at amino acid position 176 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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