Submissions for variant NM_001184.4(ATR):c.1764A>G (p.Glu588=)

gnomAD frequency: 0.00031  dbSNP: rs149482096

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001146903	SCV001307667	uncertain significance	Seckel syndrome 1	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae	RCV001416507	SCV001618689	likely benign	not provided	2024-01-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002402516	SCV002711755	likely benign	Inborn genetic diseases	2022-02-12	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV001416507	SCV004148507	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	ATR: BP4, BP7