ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.3838C>T (p.Arg1280Cys)

gnomAD frequency: 0.00035  dbSNP: rs144042993
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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) RCV000595392 SCV000703818 uncertain significance not provided 2017-12-26 criteria provided, single submitter clinical testing
Invitae RCV000802278 SCV000942102 likely benign Autosomal recessive polycystic kidney disease 2024-01-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000802278 SCV001323759 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.
Ambry Genetics RCV002531030 SCV003745721 uncertain significance Inborn genetic diseases 2021-08-10 criteria provided, single submitter clinical testing The c.3838C>T (p.R1280C) alteration is located in exon 32 (coding exon 31) of the PKHD1 gene. This alteration results from a C to T substitution at nucleotide position 3838, causing the arginine (R) at amino acid position 1280 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000802278 SCV001459386 uncertain significance Autosomal recessive polycystic kidney disease 2018-06-28 no assertion criteria provided clinical testing

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