Submissions for variant NM_138694.4(PKHD1):c.2444A>G (p.Gln815Arg)

gnomAD frequency: 0.00009  dbSNP: rs145789167

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000732312	SCV000860247	uncertain significance	not provided	2018-03-15	criteria provided, single submitter	clinical testing
Blueprint Genetics	RCV000732312	SCV000927494	uncertain significance	not provided	2017-12-12	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001160098	SCV001321867	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	RCV001160098	SCV001698459	likely benign	Autosomal recessive polycystic kidney disease	2024-01-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002535265	SCV003690071	uncertain significance	Inborn genetic diseases	2021-09-14	criteria provided, single submitter	clinical testing	The c.2444A>G (p.Q815R) alteration is located in exon 24 (coding exon 23) of the PKHD1 gene. This alteration results from a A to G substitution at nucleotide position 2444, causing the glutamine (Q) at amino acid position 815 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.