ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4313T>G (p.Ile1438Ser)

dbSNP: rs1591663009
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001022277 SCV001183992 uncertain significance Hereditary cancer-predisposing syndrome 2019-08-13 criteria provided, single submitter clinical testing The p.I1438S variant (also known as c.4313T>G), located in coding exon 28 of the ATM gene, results from a T to G substitution at nucleotide position 4313. The isoleucine at codon 1438 is replaced by serine, an amino acid with 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.
Cancer Genomics Group, Japanese Foundation For Cancer Research RCV001030529 SCV001193477 uncertain significance Hereditary breast ovarian cancer syndrome 2019-05-01 criteria provided, single submitter research

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