ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.320G>T (p.Cys107Phe)

dbSNP: rs142358238
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001019259 SCV001180591 uncertain significance Hereditary cancer-predisposing syndrome 2022-07-13 criteria provided, single submitter clinical testing The p.C107F variant (also known as c.320G>T), located in coding exon 3 of the ATM gene, results from a G to T substitution at nucleotide position 320. The cysteine at codon 107 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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