ClinVar Miner

Submissions for variant NM_001184900.3(CARD8):c.352G>C (p.Val118Leu)

gnomAD frequency: 0.00014  dbSNP: rs536212135
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001910901 SCV002162366 uncertain significance not provided 2024-12-19 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 68 of the CARD8 protein (p.Val68Leu). This variant is present in population databases (rs536212135, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with CARD8-related conditions. ClinVar contains an entry for this variant (Variation ID: 1391055). 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. 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.
Ambry Genetics RCV004039161 SCV003682373 uncertain significance not specified 2025-01-17 criteria provided, single submitter clinical testing The c.352G>C (p.V118L) alteration is located in exon 4 (coding exon 4) of the CARD8 gene. This alteration results from a G to C substitution at nucleotide position 352, causing the valine (V) at amino acid position 118 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003401839 SCV004103993 uncertain significance CARD8-related disorder 2023-07-12 criteria provided, single submitter clinical testing The CARD8 c.352G>C variant is predicted to result in the amino acid substitution p.Val118Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.020% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/19-48735749-C-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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