Submissions for variant NM_138694.4(PKHD1):c.3761C>G (p.Ala1254Gly)

gnomAD frequency: 0.00023  dbSNP: rs148901752

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001163375	SCV001325404	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001163375	SCV002395378	benign	Autosomal recessive polycystic kidney disease	2024-01-20	criteria provided, single submitter	clinical testing
GeneDx	RCV004777976	SCV005388319	uncertain significance	not provided	2024-05-01	criteria provided, single submitter	clinical testing	Observed with a likely pathogenic variant on the same allele (in cis) in an individual referred for genetic testing at GeneDx; In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences	RCV003928762	SCV004737500	likely benign	PKHD1-related disorder	2022-05-04	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).