ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.5698T>C (p.Cys1900Arg)

dbSNP: rs2083817433
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001525277 SCV001735332 uncertain significance Hereditary cancer-predisposing syndrome 2021-01-19 criteria provided, single submitter clinical testing This missense variant replaces cysteine with arginine at codon 1900 of the ATM protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Baylor Genetics RCV004571048 SCV005056939 uncertain significance Familial cancer of breast 2024-02-28 criteria provided, single submitter clinical testing

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