Submissions for variant NM_012232.6(CAVIN1):c.540G>A (p.Glu180=)

gnomAD frequency: 0.00124  dbSNP: rs143511306

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000500363	SCV000596631	uncertain significance	not specified	2015-08-17	criteria provided, single submitter	clinical testing
Invitae	RCV000972601	SCV001120323	likely benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001122896	SCV001281667	uncertain significance	Congenital generalized lipodystrophy type 4	2018-01-13	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Athena Diagnostics Inc	RCV000500363	SCV001476794	benign	not specified	2019-10-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000972601	SCV001794854	likely benign	not provided	2021-02-16	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003915389	SCV004728946	likely benign	CAVIN1-related condition	2019-05-22	criteria provided, single submitter	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).
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV000972601	SCV001551916	uncertain significance	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000972601	SCV001927633	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000972601	SCV001973437	likely benign	not provided		no assertion criteria provided	clinical testing