ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.1262C>T (p.Ser421Leu)

gnomAD frequency: 0.00001  dbSNP: rs758313905
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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 RCV002644650 SCV003528389 uncertain significance Inborn genetic diseases 2022-06-09 criteria provided, single submitter clinical testing The c.1262C>T (p.S421L) alteration is located in exon 9 (coding exon 8) of the NIPBL gene. This alteration results from a C to T substitution at nucleotide position 1262, causing the serine (S) at amino acid position 421 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005034832 SCV005671236 uncertain significance Cornelia de Lange syndrome 1 2024-01-22 criteria provided, single submitter clinical testing

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