Submissions for variant NM_005334.3(HCFC1):c.5276A>G (p.Asn1759Ser)

gnomAD frequency: 0.00040  dbSNP: rs782384589

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000606981	SCV000728541	likely benign	not specified	2017-07-07	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	RCV000892959	SCV001036869	benign	Methylmalonic acidemia with homocystinuria, type cblX	2024-01-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002528711	SCV003644329	likely benign	Inborn genetic diseases	2021-08-30	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	RCV003945537	SCV004756879	likely benign	HCFC1-related disorder	2020-03-24	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).