Submissions for variant NM_001009944.3(PKD1):c.6868G>T (p.Asp2290Tyr)

dbSNP: rs550509675

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001762943	SCV001988945	uncertain significance	not provided	2021-01-20	criteria provided, single submitter	clinical testing	Identified in multiple individuals with clinical features of ADPKD (Jin et al., 2016; Liang et al., 2019; Kim et al. 2020). Segregation information was available in one individual who inherited this variant from a mother who was reported to be clinically unaffected. This individual also possessed a nonsense variant and another missense variant in PKD1 (Liang et al., 2019); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27782177, 31730820, 32816041)
Ambry Genetics	RCV004040070	SCV005005273	likely benign	Inborn genetic diseases	2023-10-29	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.