ClinVar Miner

Submissions for variant NM_001377458.1(CLCC1):c.1600G>A (p.Ala534Thr)

gnomAD frequency: 0.00081  dbSNP: rs148212619
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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 RCV001048536 SCV001212548 uncertain significance not provided 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 534 of the CLCC1 protein (p.Ala534Thr). This variant is present in population databases (rs148212619, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with CLCC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 845469). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
GenomeConnect - Invitae Patient Insights Network RCV003483764 SCV004228912 not provided Retinitis pigmentosa 32 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 01-28-2021 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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