ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.6557A>G (p.Glu2186Gly)

gnomAD frequency: 0.00001  dbSNP: rs398124469
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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) RCV000082499 SCV000114541 uncertain significance not provided 2015-08-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002514444 SCV003623406 uncertain significance Inborn genetic diseases 2022-06-29 criteria provided, single submitter clinical testing The c.6557A>G (p.E2186G) alteration is located in exon 38 (coding exon 37) of the NIPBL gene. This alteration results from a A to G substitution at nucleotide position 6557, causing the glutamic acid (E) at amino acid position 2186 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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