ClinVar Miner

Submissions for variant NM_006846.4(SPINK5):c.523T>G (p.Cys175Gly)

gnomAD frequency: 0.00001  dbSNP: rs772662655
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003763801 SCV001234678 uncertain significance Ichthyosis linearis circumflexa 2022-01-15 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 862727). This variant has not been reported in the literature in individuals affected with SPINK5-related conditions. This variant is present in population databases (rs772662655, gnomAD 0.003%). This sequence change replaces cysteine, which is neutral and slightly polar, with glycine, which is neutral and non-polar, at codon 175 of the SPINK5 protein (p.Cys175Gly).

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