ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.1236G>T (p.Trp412Cys)

dbSNP: rs79220522
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000709166 SCV000838485 uncertain significance Ataxia-telangiectasia syndrome 2018-07-02 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002227210 SCV002506169 uncertain significance not provided 2022-01-13 criteria provided, single submitter clinical testing The ATM c.1236G>T; p.Trp412Cys variant (rs79220522), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 584777). This variant is found in the general population with an overall allele frequency of 0.0024% (6/250182 alleles) in the Genome Aggregation Database. The tryptophan at codon 412 is highly conserved, and computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.494). Due to limited information, the clinical significance of this variant is uncertain at this time.

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