Submissions for variant NM_000051.4(ATM):c.1010G>T (p.Arg337Leu)

dbSNP: rs202160435

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001055891	SCV001220305	uncertain significance	Ataxia-telangiectasia syndrome	2022-11-06	criteria provided, single submitter	clinical testing	This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 337 of the ATM protein (p.Arg337Leu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 851484). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Color Diagnostics, LLC DBA Color Health	RCV001185821	SCV001352127	uncertain significance	Hereditary cancer-predisposing syndrome	2019-06-06	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001055891	SCV001781393	uncertain significance	Ataxia-telangiectasia syndrome	2021-07-14	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001055891	SCV001456877	uncertain significance	Ataxia-telangiectasia syndrome	2020-09-16	no assertion criteria provided	clinical testing