ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.2180A>G (p.Asn727Ser)

gnomAD frequency: 0.00001  dbSNP: rs727504090
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153721 SCV000203279 uncertain significance not provided 2014-03-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765890 SCV000897300 uncertain significance Autosomal recessive polycystic kidney disease 2018-10-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV001331698 SCV001523794 uncertain significance Polycystic kidney disease 4 2019-11-07 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV000765890 SCV003516905 pathogenic Autosomal recessive polycystic kidney disease 2023-08-18 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 727 of the PKHD1 protein (p.Asn727Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with polycystic kidney disease (PMID: 16133180, 31395954; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 167492). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PKHD1 protein function. For these reasons, this variant has been classified as Pathogenic.

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