ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.607G>T (p.Ala203Ser)

gnomAD frequency: 0.00001  dbSNP: rs904361724
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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 RCV002317223 SCV000670492 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-11-29 criteria provided, single submitter clinical testing The p.A203S variant (also known as c.607G>T), located in coding exon 6 of the NF1 gene, results from a G to T substitution at nucleotide position 607. The alanine at codon 203 is replaced by serine, an amino acid with similar properties. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001206849 SCV001378180 uncertain significance Neurofibromatosis, type 1 2022-06-30 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt NF1 protein function. ClinVar contains an entry for this variant (Variation ID: 484063). This variant has not been reported in the literature in individuals affected with NF1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 203 of the NF1 protein (p.Ala203Ser). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Genome-Nilou Lab RCV001206849 SCV002561491 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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