Submissions for variant NM_001378454.1(ALMS1):c.9861A>G (p.Pro3287=)

gnomAD frequency: 0.00034  dbSNP: rs114687298

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000231000	SCV000290111	likely benign	Alstrom syndrome	2024-01-21	criteria provided, single submitter	clinical testing
GeneDx	RCV001697589	SCV000532636	likely benign	not provided	2021-03-09	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000418717	SCV000967151	likely benign	not specified	2017-08-23	criteria provided, single submitter	clinical testing	p.Pro3286Pro in exon 12 of ALMS1: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.05% (32/66722) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac. broadinstitute.org; dbSNP rs114687298).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000418717	SCV002015041	likely benign	not specified	2021-10-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002379016	SCV002691223	likely benign	Cardiovascular phenotype	2019-06-25	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.
CeGaT Center for Human Genetics Tuebingen	RCV001697589	SCV002822668	likely benign	not provided	2022-10-01	criteria provided, single submitter	clinical testing	ALMS1: BP4, BP7