ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.3151C>T (p.Arg1051Cys)

gnomAD frequency: 0.00005  dbSNP: rs367641692
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001208946 SCV001380362 likely benign not provided 2025-01-13 criteria provided, single submitter clinical testing
GeneDx RCV001208946 SCV001825642 uncertain significance not provided 2021-02-18 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV003163584 SCV003876029 uncertain significance Inborn genetic diseases 2023-01-17 criteria provided, single submitter clinical testing The c.3151C>T (p.R1051C) alteration is located in exon 15 (coding exon 15) of the ATR gene. This alteration results from a C to T substitution at nucleotide position 3151, causing the arginine (R) at amino acid position 1051 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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