ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.6848T>C (p.Leu2283Pro)

gnomAD frequency: 0.00002  dbSNP: rs776592297
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002312372 SCV000846612 uncertain significance Inborn genetic diseases 2016-05-17 criteria provided, single submitter clinical testing The p.L2283P variant (also known as c.6848T>C), located in coding exon 22 of the NSD1 gene, results from a T to C substitution at nucleotide position 6848. The leucine at codon 2283 is replaced by proline, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV003231601 SCV002789775 uncertain significance Sotos syndrome 2021-07-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003231601 SCV003254152 likely benign Sotos syndrome 2022-03-09 criteria provided, single submitter clinical testing

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