Submissions for variant NM_000051.4(ATM):c.7526dup (p.Met2509fs)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002393847	SCV002672671	pathogenic	Hereditary cancer-predisposing syndrome	2017-10-09	criteria provided, single submitter	clinical testing	The c.7526dupT pathogenic mutation, located in coding exon 50 of the ATM gene, results from a duplication of T at nucleotide position 7526, causing a translational frameshift with a predicted alternate stop codon (p.M2509Ifs*7). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Labcorp Genetics (formerly Invitae), Labcorp	RCV003099666	SCV003241163	pathogenic	Ataxia-telangiectasia syndrome	2022-10-04	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Met2509Ilefs*7) 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).