Submissions for variant NM_000051.4(ATM):c.5414G>A (p.Trp1805Ter)

dbSNP: rs879254171

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000235544	SCV000293705	pathogenic	not provided	2019-08-12	criteria provided, single submitter	clinical testing	Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek 2016); This variant is associated with the following publications: (PMID: 22006793, 25980754)
Counsyl	RCV000674524	SCV000799874	likely pathogenic	Ataxia-telangiectasia syndrome	2018-05-11	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001182325	SCV001347748	pathogenic	Hereditary cancer-predisposing syndrome	2020-01-15	criteria provided, single submitter	clinical testing	This variant changes 1 nucleotide in exon 36 of the ATM gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of ATM function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen	RCV000235544	SCV001502092	likely pathogenic	not provided	2020-10-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000674524	SCV001590433	pathogenic	Ataxia-telangiectasia syndrome	2023-09-26	criteria provided, single submitter	clinical testing	ClinVar contains an entry for this variant (Variation ID: 246237). This premature translational stop signal has been observed in individual(s) with Lynch syndrome (PMID: 25980754). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp1805*) in the ATM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc.	RCV004020932	SCV004931419	pathogenic	Familial cancer of breast	2024-01-25	criteria provided, single submitter	clinical testing	This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.