ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.5731C>T (p.Arg1911Cys)

gnomAD frequency: 0.00033  dbSNP: rs149553146
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082562 SCV000114604 uncertain significance not provided 2017-11-06 criteria provided, single submitter clinical testing
Counsyl RCV000671325 SCV000796287 uncertain significance Autosomal recessive polycystic kidney disease 2017-12-11 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000671325 SCV001323630 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 RCV000671325 SCV001668767 likely benign Autosomal recessive polycystic kidney disease 2024-01-16 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000082562 SCV004227251 uncertain significance not provided 2023-01-27 criteria provided, single submitter clinical testing PM2
PreventionGenetics, part of Exact Sciences RCV003945030 SCV004758403 uncertain significance PKHD1-related disorder 2024-02-21 criteria provided, single submitter clinical testing The PKHD1 c.5731C>T variant is predicted to result in the amino acid substitution p.Arg1911Cys. To our knowledge, this variant has not been reported in patients with autosomal recessive polycystic kidney disease (ARPKD) in the literature. However, this variant has been reported to occur de novo in individuals with autism spectrum disorder (Iossifov et al. 2014. PubMed ID: 25363768, Suppl. Table 2; Koire et al. 2021. PubMed ID: 34011629, Table S1; Turner et al. 2019. PubMed ID: 31785789, Table S2). This variant is reported in 0.039% of alleles in individuals of Ashkenazi Jewish descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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