ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.1652C>T (p.Ser551Leu)

gnomAD frequency: 0.00004  dbSNP: rs201449588
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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 RCV000702331 SCV000831183 uncertain significance Pityriasis rubra pilaris; Psoriasis 2 2021-10-03 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with CARD14-related conditions. This variant is present in population databases (rs201449588, ExAC 0.02%). This sequence change replaces serine with leucine at codon 551 of the CARD14 protein (p.Ser551Leu). The serine residue is weakly conserved and there is a large physicochemical difference between serine and leucine.
Ambry Genetics RCV002534395 SCV003576602 uncertain significance Inborn genetic diseases 2021-09-27 criteria provided, single submitter clinical testing The c.1652C>T (p.S551L) alteration is located in exon 12 (coding exon 11) of the CARD14 gene. This alteration results from a C to T substitution at nucleotide position 1652, causing the serine (S) at amino acid position 551 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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