ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.3643A>T (p.Ser1215Cys)

gnomAD frequency: 0.00002  dbSNP: rs752105357
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728193 SCV000855737 uncertain significance not provided 2017-07-11 criteria provided, single submitter clinical testing
Invitae RCV002535060 SCV003257819 uncertain significance Autosomal recessive polycystic kidney disease 2022-03-17 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 1215 of the PKHD1 protein (p.Ser1215Cys). This variant is present in population databases (rs752105357, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 593214). 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"). 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.

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