Submissions for variant NM_001378454.1(ALMS1):c.1773C>T (p.Asp591=)

gnomAD frequency: 0.00003  dbSNP: rs369744185

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000829129	SCV000970842	likely benign	not provided	2018-06-11	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.
Invitae	RCV001087146	SCV001015370	likely benign	Alstrom syndrome	2023-11-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002399845	SCV002711198	likely benign	Cardiovascular phenotype	2019-11-28	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Natera, Inc.	RCV001087146	SCV002080426	likely benign	Alstrom syndrome	2021-08-13	no assertion criteria provided	clinical testing