Submissions for variant NM_138694.4(PKHD1):c.10354A>G (p.Thr3452Ala)

gnomAD frequency: 0.00009  dbSNP: rs562503637

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000595378	SCV000703032	uncertain significance	not provided	2018-01-09	criteria provided, single submitter	clinical testing
Invitae	RCV001034151	SCV001197478	likely benign	Autosomal recessive polycystic kidney disease	2024-01-27	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003409859	SCV004115303	uncertain significance	PKHD1-related disorder	2023-07-27	criteria provided, single submitter	clinical testing	The PKHD1 c.10354A>G variant is predicted to result in the amino acid substitution p.Thr3452Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.051% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-51524570-T-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV003989565	SCV004807868	uncertain significance	Polycystic kidney disease 4	2024-03-29	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001034151	SCV001453259	uncertain significance	Autosomal recessive polycystic kidney disease	2017-11-17	no assertion criteria provided	clinical testing