ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.2990T>A (p.Met997Lys)

dbSNP: rs2128182593
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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 RCV001384608 SCV001584165 pathogenic Autosomal recessive polycystic kidney disease 2020-08-14 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with polycystic kidney disease (PMID: 12506140). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with lysine at codon 997 of the PKHD1 protein (p.Met997Lys). The methionine residue is moderately conserved and there is a moderate physicochemical difference between methionine and lysine. For these reasons, this variant has been classified as Pathogenic. 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 expected to disrupt PKHD1 protein function.
Revvity Omics, Revvity RCV003492252 SCV004236087 uncertain significance Polycystic kidney disease 4 2024-01-11 criteria provided, single submitter clinical testing

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