Submissions for variant NM_000051.3(ATM):c.2043T>A (p.Ser681=) (rs746422877)

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000537049	SCV000622303	uncertain significance	Ataxia-telangiectasia syndrome	2018-07-26	criteria provided, single submitter	clinical testing	This sequence change affects codon 681 of the ATM mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ATM protein. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an ATM-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a novel silent change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.
GeneDx	RCV000603603	SCV000717271	likely benign	not specified	2017-03-16	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color	RCV000771709	SCV000904345	likely benign	Hereditary cancer-predisposing syndrome	2018-02-15	criteria provided, single submitter	clinical testing