Submissions for variant NM_001242957.3(MAK):c.7C>T (p.Arg3Ter)

gnomAD frequency: 0.00001  dbSNP: rs558628181

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001384965	SCV001584672	pathogenic	not provided	2023-07-16	criteria provided, single submitter	clinical testing	This variant is present in population databases (rs558628181, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with MAK-related conditions. ClinVar contains an entry for this variant (Variation ID: 1072281). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Arg3*) in the MAK gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MAK are known to be pathogenic (PMID: 21148103, 21825139, 24938718, 29781741).
Baylor Genetics	RCV004557581	SCV005049481	likely pathogenic	Retinitis pigmentosa 62	2023-12-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003973223	SCV004795008	likely benign	MAK-related disorder	2019-03-05	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).