ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.3577-1G>C (rs1057517226)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410163 SCV000486943 likely pathogenic Ataxia-telangiectasia syndrome 2016-09-09 criteria provided, single submitter clinical testing
GeneKor MSA RCV000708602 SCV000821700 likely pathogenic Hereditary cancer-predisposing syndrome 2020-01-01 criteria provided, single submitter clinical testing This sequence change occurs 1 nucleotides before exon 25 of the ATM gene. This position is highly conserved in the human and other genomes and is crucial in mRNA processing. This variant is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. Donor and acceptor splice site variants as usual lead to a loss of protein function (PMID: 16199547). This variant has been described in the international literature in an individual undergoing panel testing for hereditary syndrome (PMID: 31159747). The mutation database ClinVar contains entries for this variant (Variation ID:371378).
Color RCV000708602 SCV001340194 likely pathogenic Hereditary cancer-predisposing syndrome 2019-12-23 criteria provided, single submitter clinical testing

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