ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.1829A>G (p.Tyr610Cys)

gnomAD frequency: 0.00004  dbSNP: rs199846197
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000408643 SCV000484486 uncertain significance not provided 2015-08-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000408643 SCV001154777 uncertain significance not provided 2019-05-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480259 SCV002781912 uncertain significance Polycystic kidney disease 4 2021-07-19 criteria provided, single submitter clinical testing
Invitae RCV002523837 SCV003476207 uncertain significance Autosomal recessive polycystic kidney disease 2022-10-30 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 610 of the PKHD1 protein (p.Tyr610Cys). This variant is present in population databases (rs199846197, gnomAD 0.008%). 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: 369725). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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.
Ambry Genetics RCV004022128 SCV005006781 uncertain significance Inborn genetic diseases 2024-02-12 criteria provided, single submitter clinical testing The c.1829A>G (p.Y610C) alteration is located in exon 19 (coding exon 18) of the PKHD1 gene. This alteration results from a A to G substitution at nucleotide position 1829, causing the tyrosine (Y) at amino acid position 610 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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