Submissions for variant NM_000051.4(ATM):c.3841del (p.Ser1281fs)

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Total submissions: 4

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000255461	SCV000322539	likely pathogenic	not provided	2016-02-18	criteria provided, single submitter	clinical testing	This deletion of one nucleotide in ATM is denoted c.3841delA at the cDNA level and p.Ser1281ValfsX3 (S1281VfsX3) at the protein level. The normal sequence, with the base that is deleted in braces, is GAAA[A]GTCT. The deletion causes a frameshift which changes a Serine to a Valine at codon 1281, and creates a premature stop codon at position 3 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Based on the currently available information, we consider this deletion to be a likely pathogenic variant.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001389908	SCV001591431	pathogenic	Ataxia-telangiectasia syndrome	2020-10-15	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Ser1281Valfs*3) in the ATM gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 265554). Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics	RCV003469200	SCV004212121	likely pathogenic	Familial cancer of breast	2023-01-05	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV003469200	SCV004932523	pathogenic	Familial cancer of breast	2024-01-23	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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