Submissions for variant NM_138694.4(PKHD1):c.1307C>G (p.Thr436Ser)

gnomAD frequency: 0.00093  dbSNP: rs146789444

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000597573	SCV000709397	uncertain significance	not provided	2018-07-12	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000765892	SCV000897303	uncertain significance	Autosomal recessive polycystic kidney disease	2018-10-31	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000765892	SCV001004170	likely benign	Autosomal recessive polycystic kidney disease	2024-10-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004024858	SCV005006774	uncertain significance	Inborn genetic diseases	2021-08-02	criteria provided, single submitter	clinical testing	The c.1307C>G (p.T436S) alteration is located in exon 16 (coding exon 15) of the PKHD1 gene. This alteration results from a C to G substitution at nucleotide position 1307, causing the threonine (T) at amino acid position 436 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc.	RCV000765892	SCV001463322	likely benign	Autosomal recessive polycystic kidney disease	2020-09-16	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003927945	SCV004744896	likely benign	PKHD1-related disorder	2022-03-14	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).