ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.722A>G (p.Asp241Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004560802 SCV005048752 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2024-01-29 criteria provided, single submitter clinical testing The p.D241G variant (also known as c.722A>G), located in coding exon 7 of the NF1 gene, results from an A to G substitution at nucleotide position 722. The aspartic acid at codon 241 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

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