ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7153A>G (p.Asn2385Asp)

dbSNP: rs1597851405
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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 RCV002400199 SCV001188325 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2019-05-31 criteria provided, single submitter clinical testing The p.N2364D variant (also known as c.7090A>G), located in coding exon 47 of the NF1 gene, results from an A to G substitution at nucleotide position 7090. The asparagine at codon 2364 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is highly 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 RCV003327483 SCV004034848 uncertain significance not provided 2023-03-06 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 25486365)

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