ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.3383C>T (p.Ser1128Phe)

dbSNP: rs559441081
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178985 SCV000231171 uncertain significance not provided 2014-08-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000178985 SCV003231755 likely benign not provided 2022-10-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004751342 SCV005361475 uncertain significance NSD1-related disorder 2024-06-13 no assertion criteria provided clinical testing The NSD1 c.3383C>T variant is predicted to result in the amino acid substitution p.Ser1128Phe. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0029% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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