Submissions for variant NM_000020.3(ACVRL1):c.-52G>A

gnomAD frequency: 0.00390  dbSNP: rs573048639

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000506378	SCV000379825	uncertain significance	Telangiectasia, hereditary hemorrhagic, type 2	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, 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000506378	SCV000602396	benign	Telangiectasia, hereditary hemorrhagic, type 2	2023-06-12	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003221906	SCV003917218	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	ACVRL1: BS1