ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.727G>T (p.Ala243Ser)

dbSNP: rs773601448
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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) RCV000734289 SCV000862419 uncertain significance not provided 2018-07-13 criteria provided, single submitter clinical testing
Invitae RCV001855807 SCV002118642 uncertain significance Autosomal recessive polycystic kidney disease 2021-09-24 criteria provided, single submitter clinical testing This sequence change replaces alanine with serine at codon 243 of the PKHD1 protein (p.Ala243Ser). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and serine. This variant is present in population databases (rs773601448, ExAC 0.006%). This variant has not been reported in the literature in individuals with PKHD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 598005). 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. 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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