ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.887C>G (p.Pro296Arg)

dbSNP: rs1189702665
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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 RCV002315448 SCV000849349 uncertain significance Inborn genetic diseases 2018-06-25 criteria provided, single submitter clinical testing The p.P296R variant (also known as c.887C>G), located in coding exon 1 of the NSD1 gene, results from a C to G substitution at nucleotide position 887. The proline at codon 296 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003232083 SCV003251594 likely benign Sotos syndrome 2022-02-12 criteria provided, single submitter clinical testing

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