Submissions for variant NM_000051.4(ATM):c.4879C>T (p.Gln1627Ter)

dbSNP: rs886039592

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000255728	SCV000322485	likely pathogenic	not provided	2015-12-28	criteria provided, single submitter	clinical testing	The Q1627X variant in the ATM gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q1627X variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The Q1627X variant is a strong candidate for a pathogenic variant. However, the possibility it may be a rare benign variant cannot be excluded.
Ambry Genetics	RCV000575032	SCV000665661	pathogenic	Hereditary cancer-predisposing syndrome	2024-09-27	criteria provided, single submitter	clinical testing	The p.Q1627* pathogenic mutation (also known as c.4879C>T), located in coding exon 31 of the ATM gene, results from a C to T substitution at nucleotide position 4879. This changes the amino acid from a glutamine to a stop codon within coding exon 31. 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.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000255728	SCV001955270	pathogenic	not provided		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000255728	SCV001963239	pathogenic	not provided		no assertion criteria provided	clinical testing