ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.7024G>A (p.Gly2342Ser)

gnomAD frequency: 0.00001  dbSNP: rs1554290169
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000633425 SCV000754649 uncertain significance Autosomal recessive polycystic kidney disease 2017-10-18 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with PKHD1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with serine at codon 2342 of the PKHD1 protein (p.Gly2342Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine.
Natera, Inc. RCV000633425 SCV002078032 uncertain significance Autosomal recessive polycystic kidney disease 2018-06-08 no assertion criteria provided clinical testing

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