ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1037T>C (p.Val346Ala)

dbSNP: rs1597681117
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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 RCV002319626 SCV001178128 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-09-01 criteria provided, single submitter clinical testing The p.V346A variant (also known as c.1037T>C), located in coding exon 9 of the NF1 gene, results from a T to C substitution at nucleotide position 1037. The valine at codon 346 is replaced by alanine, an amino acid with similar properties. This amino acid position is highly 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001322145 SCV001513002 uncertain significance Neurofibromatosis, type 1 2020-09-11 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with NF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 822061). This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with alanine at codon 346 of the NF1 protein (p.Val346Ala). The valine residue is highly conserved and there is a small physicochemical difference between valine and alanine.
Genome-Nilou Lab RCV001322145 SCV002561858 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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