ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.5044G>C (p.Asp1682His)

dbSNP: rs121434217
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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 RCV002336074 SCV002641847 uncertain significance Hereditary cancer-predisposing syndrome 2020-12-22 criteria provided, single submitter clinical testing The p.D1682H variant (also known as c.5044G>C), located in coding exon 33 of the ATM gene, results from a G to C substitution at nucleotide position 5044. The aspartic acid at codon 1682 is replaced by histidine, an amino acid with similar 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.
OMIM RCV000003165 SCV000023323 pathogenic T-cell prolymphocytic leukemia 1997-09-01 no assertion criteria provided literature only

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