ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4695del (p.Pro1566fs)

dbSNP: rs1057517452
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411883 SCV000487302 likely pathogenic Ataxia-telangiectasia syndrome 2016-11-11 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV000411883 SCV003807960 likely pathogenic Ataxia-telangiectasia syndrome 2022-11-18 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PM2 moderated
Ambry Genetics RCV004022149 SCV005017061 pathogenic Hereditary cancer-predisposing syndrome 2022-11-21 criteria provided, single submitter clinical testing The c.4695delT pathogenic mutation, located in coding exon 30 of the ATM gene, results from a deletion of one nucleotide at nucleotide position 4695, causing a translational frameshift with a predicted alternate stop codon (p.P1566Lfs*35). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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