Submissions for variant NM_014244.5(ADAMTS2):c.2267T>C (p.Val756Ala)

gnomAD frequency: 0.00086  dbSNP: rs141650732

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001079508	SCV000768014	likely benign	Ehlers-Danlos syndrome, dermatosparaxis type	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000646247	SCV001154608	uncertain significance	not provided	2018-10-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001079508	SCV001312433	uncertain significance	Ehlers-Danlos syndrome, dermatosparaxis type	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.
GeneDx	RCV000646247	SCV001796176	likely benign	not provided	2020-08-11	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002279471	SCV002565590	uncertain significance	Ehlers-Danlos syndrome	2020-03-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003258906	SCV003950527	likely benign	Inborn genetic diseases	2023-04-28	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.