ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.950C>T (p.Thr317Met)

gnomAD frequency: 0.00001  dbSNP: rs967342981
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003414144 SCV004109246 uncertain significance NSD1-related disorder 2023-01-06 criteria provided, single submitter clinical testing The NSD1 c.950C>T variant is predicted to result in the amino acid substitution p.Thr317Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.011% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/5-176618907-C-T). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Labcorp Genetics (formerly Invitae), Labcorp RCV005104316 SCV005792225 benign not provided 2023-12-01 criteria provided, single submitter clinical testing

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