Submissions for variant NM_000051.4(ATM):c.2930_2931del (p.Cys977fs)

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Total submissions: 3

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000627908	SCV000748792	pathogenic	Ataxia-telangiectasia syndrome	2019-12-27	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). This variant has not been reported in the literature in individuals with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 524265). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Cys977Phefs*6) in the ATM gene. It is expected to result in an absent or disrupted protein product.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV002232774	SCV002511481	likely pathogenic	Malignant tumor of breast	2022-04-28	criteria provided, single submitter	clinical testing	Variant summary: ATM c.2930_2931delGT (p.Cys977PhefsX6) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 250842 control chromosomes (gnomAD). c.2930_2931delGT has been reported in the literature in individuals affected with Breast Cancer (Dorling_2021), however this report does not provide unequivocal conclusions about association of the variant with Breast Cancer. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One ClinVar submitter has assessed this variant since 2014: the variant was classified as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Myriad Genetics, Inc.	RCV004025295	SCV004933829	pathogenic	Familial cancer of breast	2024-01-18	criteria provided, single submitter	clinical testing	This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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