ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.4760_4763del (p.Ser1586_Leu1587insTer)

dbSNP: rs1554024009
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591807 SCV000703162 pathogenic not provided 2016-12-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002341517 SCV002640377 pathogenic Inborn genetic diseases 2018-03-09 criteria provided, single submitter clinical testing The c.4760_4763delTGTT pathogenic mutation, located in coding exon 22 of the NIPBL gene, results from a deletion of 4 nucleotides at nucleotide positions 4760 to 4763, causing a translational frameshift with a predicted alternate stop codon (p.L1587*). 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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