ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.1314A>C (p.Ile438=) (rs770573462)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000566352 SCV000665576 likely benign Hereditary cancer-predisposing syndrome 2016-08-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Synonymous alterations with insufficient evidence to classify as benign
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755831 SCV000883420 likely benign not provided 2017-10-26 criteria provided, single submitter clinical testing The c.1314A>C variant does not alter the amino acid sequence of the ATM protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site.It is absent from general population databases such as 1000 Genomes, NHLBI GO Exome Sequencing Project (ESP), and the genome Aggregation Database (gnomAD) browser. The c.1314A>C variant has not been reported in association with disease in medical literature or in gene specific variation databases. Based on these observations, the c.1314A>C variant is likely to be benign.
Invitae RCV000755831 SCV001085318 likely benign not provided 2019-03-03 criteria provided, single submitter clinical testing

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