Submissions for variant NM_002890.3(RASA1):c.1583A>G (p.Tyr528Cys)

gnomAD frequency: 0.00043  dbSNP: rs145752649

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000342211	SCV000458971	likely benign	Parkes Weber syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000397802	SCV000458972	benign	Capillary malformation-arteriovenous malformation 1	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000858079	SCV000562862	benign	Capillary malformation-arteriovenous malformation syndrome	2024-01-25	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000506253	SCV000605012	benign	not specified	2017-04-25	criteria provided, single submitter	clinical testing
SIB Swiss Institute of Bioinformatics	RCV000397802	SCV000803529	uncertain significance	Capillary malformation-arteriovenous malformation 1	2018-05-31	criteria provided, single submitter	curation	This variant is interpreted as a Uncertain Significance - Conflicting Evidence, for Capillary malformation-arteriovenous malformation, in Autosomal Dominant manner. The following ACMG Tag(s) were applied: PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. BS2-Supporting => BS2 downgraded in strength to supporting.
GeneDx	RCV001712339	SCV001941583	benign	not provided	2021-06-16	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24038909, 27884173, 28655553, 30507091, 27081547, 27535533, 33125148)
Ambry Genetics	RCV002402072	SCV002705958	likely benign	Cardiovascular phenotype	2018-08-07	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.
CeGaT Center for Human Genetics Tuebingen	RCV001712339	SCV004698612	benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	RASA1: PP3, BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003932460	SCV004749383	likely benign	RASA1-related disorder	2022-08-10	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).