ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.340A>G (p.Thr114Ala)

gnomAD frequency: 0.00007  dbSNP: rs749444972
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005095469 SCV002227651 benign not provided 2025-01-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003408003 SCV004114111 uncertain significance NSD1-related disorder 2023-04-12 criteria provided, single submitter clinical testing The NSD1 c.340A>G variant is predicted to result in the amino acid substitution p.Thr114Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.023% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/5-176562444-A-G). 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.

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