ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.1048G>T (p.Glu350Ter)

dbSNP: rs1586065938
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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 RCV001017079 SCV001178104 pathogenic Hereditary cancer-predisposing syndrome 2019-03-12 criteria provided, single submitter clinical testing The p.E350* pathogenic mutation (also known as c.1048G>T), located in coding exon 9 of the NBN gene, results from a G to T substitution at nucleotide position 1048. This changes the amino acid from a glutamic acid to a stop codon within coding exon 9. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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