Submissions for variant NM_001042492.3(NF1):c.1358G>C (p.Gly453Ala)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002383403	SCV002691790	uncertain significance	Hereditary cancer-predisposing syndrome; Cardiovascular phenotype	2021-12-28	criteria provided, single submitter	clinical testing	The p.G453A variant (also known as c.1358G>C), located in coding exon 12 of the NF1 gene, results from a G to C substitution at nucleotide position 1358. The glycine at codon 453 is replaced by alanine, an amino acid with similar properties. This amino acid position is well 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.
PreventionGenetics, part of Exact Sciences	RCV004548288	SCV004711516	uncertain significance	NF1-related disorder	2023-10-28	criteria provided, single submitter	clinical testing	The NF1 c.1358G>C variant is predicted to result in the amino acid substitution p.Gly453Ala. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.