Submissions for variant NM_000051.4(ATM):c.6318T>C (p.Asn2106=)

gnomAD frequency: 0.00001  dbSNP: rs864622730

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000206216	SCV000262185	likely benign	Ataxia-telangiectasia syndrome	2023-11-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000571280	SCV000660585	likely benign	Hereditary cancer-predisposing syndrome	2016-04-01	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.
Illumina Laboratory Services, Illumina	RCV000206216	SCV001264707	uncertain significance	Ataxia-telangiectasia syndrome	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.
Color Diagnostics, LLC DBA Color Health	RCV000571280	SCV001339697	likely benign	Hereditary cancer-predisposing syndrome	2019-10-11	criteria provided, single submitter	clinical testing
GeneDx	RCV001561845	SCV001784517	likely benign	not provided	2018-09-18	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV004589900	SCV005082189	benign	Familial cancer of breast	2024-06-05	criteria provided, single submitter	clinical testing	This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.