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

gnomAD frequency: 0.00035  dbSNP: rs144042993

Total submissions: 6

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
Labcorp Genetics (formerly Invitae), Labcorp	RCV000802278	SCV000942102	likely benign	Autosomal recessive polycystic kidney disease	2024-12-10	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
PreventionGenetics, part of Exact Sciences	RCV004748835	SCV005344646	uncertain significance	PKHD1-related disorder	2024-04-11	no assertion criteria provided	clinical testing	The PKHD1 c.3838C>T variant is predicted to result in the amino acid substitution p.Arg1280Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.11% of alleles in individuals of African descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.