Submissions for variant NM_000292.3(PHKA2):c.3509T>C (p.Met1170Thr)

gnomAD frequency: 0.00037  dbSNP: rs150445034

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000616904	SCV000716022	likely benign	not specified	2017-02-16	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002529429	SCV003246366	benign	Glycogen storage disease IXa1	2021-04-02	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003437302	SCV004166668	likely benign	not provided	2022-12-01	criteria provided, single submitter	clinical testing	PHKA2: BP4, BS2; PHKA2-AS1: BS2
Ambry Genetics	RCV004024913	SCV005002757	likely benign	Inborn genetic diseases	2023-12-30	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.
PreventionGenetics, part of Exact Sciences	RCV003953022	SCV004774092	likely benign	PHKA2-related disorder	2022-11-29	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).