ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.4108C>T (p.Gln1370Ter)

dbSNP: rs1581408152
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV003232172 SCV001137032 pathogenic Sotos syndrome 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005092971 SCV003439244 pathogenic not provided 2024-05-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1370*) in the NSD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NSD1 are known to be pathogenic (PMID: 12464997, 14571271, 15942875, 16247291). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of Sotos syndrome (PMID: 15452385). ClinVar contains an entry for this variant (Variation ID: 802182). For these reasons, this variant has been classified as Pathogenic.

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