ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.3761C>G (p.Ala1254Gly)

gnomAD frequency: 0.00023  dbSNP: rs148901752
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001163375 SCV001325404 uncertain significance Autosomal recessive polycystic kidney disease 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV001163375 SCV002395378 benign Autosomal recessive polycystic kidney disease 2024-01-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003928762 SCV004737500 likely benign PKHD1-related condition 2022-05-04 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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