Submissions for variant NM_138694.4(PKHD1):c.5112C>T (p.Cys1704=)

gnomAD frequency: 0.00006  dbSNP: rs202010726

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000380232	SCV000464084	uncertain significance	Autosomal recessive polycystic kidney disease	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Eurofins Ntd Llc (ga)	RCV000733100	SCV000861119	likely benign	not specified	2018-05-04	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000380232	SCV001002718	benign	Autosomal recessive polycystic kidney disease	2024-01-29	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001507321	SCV001712284	likely benign	Polycystic kidney disease 4	2021-05-18	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000380232	SCV002078092	likely benign	Autosomal recessive polycystic kidney disease	2017-05-11	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003932475	SCV004750563	likely benign	PKHD1-related disorder	2021-04-05	no assertion criteria provided	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).