ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.660G>A (p.Ala220=)

gnomAD frequency: 0.00002  dbSNP: rs763669136
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000388037 SCV000367023 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000388037 SCV000749177 likely benign Ataxia-telangiectasia syndrome 2023-12-09 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000776382 SCV000911832 likely benign Hereditary cancer-predisposing syndrome 2018-06-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000776382 SCV001187647 likely benign Hereditary cancer-predisposing syndrome 2015-10-07 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.
GeneDx RCV001706450 SCV001843342 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004591115 SCV005082613 benign Familial cancer of breast 2024-04-22 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.
Natera, Inc. RCV000388037 SCV002085857 likely benign Ataxia-telangiectasia syndrome 2020-01-18 no assertion criteria provided clinical testing

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