Submissions for variant NM_138694.4(PKHD1):c.6782A>G (p.Asn2261Ser)

gnomAD frequency: 0.00048  dbSNP: rs146102132

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000593640	SCV000700491	uncertain significance	not provided	2018-06-19	criteria provided, single submitter	clinical testing
Invitae	RCV001479944	SCV001684252	likely benign	Autosomal recessive polycystic kidney disease	2024-01-24	criteria provided, single submitter	clinical testing
GeneDx	RCV000593640	SCV001874028	uncertain significance	not provided	2023-05-15	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics	RCV003160006	SCV003879118	uncertain significance	Inborn genetic diseases	2023-02-27	criteria provided, single submitter	clinical testing	The c.6782A>G (p.N2261S) alteration is located in exon 41 (coding exon 40) of the PKHD1 gene. This alteration results from a A to G substitution at nucleotide position 6782, causing the asparagine (N) at amino acid position 2261 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences	RCV003915687	SCV004744874	likely benign	PKHD1-related disorder	2022-04-15	criteria provided, single submitter	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).