ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.682C>G (p.Pro228Ala)

gnomAD frequency: 0.00003  dbSNP: rs770522999
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002312355 SCV000846532 uncertain significance Inborn genetic diseases 2016-05-06 criteria provided, single submitter clinical testing The p.P228A variant (also known as c.682C>G), located in coding exon 1 of the NSD1 gene, results from a C to G substitution at nucleotide position 682. The proline at codon 228 is replaced by alanine, an amino acid with highly 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 well 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.
GeneDx RCV001574544 SCV001801381 likely benign not provided 2020-12-16 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV003231600 SCV002054982 likely benign Sotos syndrome 2021-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001574544 SCV002146765 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV001574544 SCV004026112 uncertain significance not provided 2022-10-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV003231600 SCV005670213 uncertain significance Sotos syndrome 2024-04-19 criteria provided, single submitter clinical testing

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