Submissions for variant NM_001394062.1(MACF1):c.14471C>T (p.Ala4824Val)

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002899895	SCV003244815	likely benign	not provided	2024-03-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002899894	SCV003576304	likely benign	Inborn genetic diseases	2021-10-29	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.
Genome-Nilou Lab	RCV003348925	SCV004049368	likely benign	Lissencephaly 9 with complex brainstem malformation	2023-04-11	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV002899895	SCV005256652	likely benign	not provided		criteria provided, single submitter	not provided
GeneDx	RCV002899895	SCV005332612	uncertain significance	not provided	2023-08-07	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences	RCV003916565	SCV004729168	likely benign	MACF1-related disorder	2023-02-22	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).