ClinVar Miner

Submissions for variant NM_153460.4(IL17RC):c.823G>A (p.Val275Met)

gnomAD frequency: 0.00014  dbSNP: rs200405939
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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 RCV001053849 SCV001218131 uncertain significance Candidiasis, familial, 9 2023-05-17 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: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 849815). This variant has not been reported in the literature in individuals affected with IL17RC-related conditions. This variant is present in population databases (rs200405939, gnomAD 0.02%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 346 of the IL17RC protein (p.Val346Met).
Ambry Genetics RCV004031693 SCV003939420 uncertain significance not specified 2023-06-02 criteria provided, single submitter clinical testing The c.1036G>A (p.V346M) alteration is located in exon 10 (coding exon 10) of the IL17RC gene. This alteration results from a G to A substitution at nucleotide position 1036, causing the valine (V) at amino acid position 346 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004693526 SCV005187504 uncertain significance not provided criteria provided, single submitter not provided

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