ClinVar Miner

Submissions for variant NM_153460.4(IL17RC):c.376G>A (p.Val126Met)

gnomAD frequency: 0.00002  dbSNP: rs1460510963
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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 RCV000796799 SCV000936327 uncertain significance Candidiasis, familial, 9 2022-11-15 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 643162). This variant has not been reported in the literature in individuals affected with IL17RC-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 197 of the IL17RC protein (p.Val197Met). 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 RCV004027575 SCV003900571 uncertain significance not specified 2023-02-23 criteria provided, single submitter clinical testing The c.589G>A (p.V197M) alteration is located in exon 5 (coding exon 5) of the IL17RC gene. This alteration results from a G to A substitution at nucleotide position 589, causing the valine (V) at amino acid position 197 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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