ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4846G>A (p.Gly1616Ser)

dbSNP: rs1555533271
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000539598 SCV000628619 uncertain significance Neurofibromatosis, type 1 2017-05-28 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with a NF1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant has uncertain impact on NF1 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with serine at codon 1595 of the NF1 protein (p.Gly1595Ser). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and serine.
Ambry Genetics RCV002319032 SCV001184857 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2019-11-01 criteria provided, single submitter clinical testing The p.G1595S variant (also known as c.4783G>A), located in coding exon 36 of the NF1 gene, results from a G to A substitution at nucleotide position 4783. The glycine at codon 1595 is replaced by serine, 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.
Genome-Nilou Lab RCV000539598 SCV002560478 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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