ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.8239G>A (p.Asp2747Asn)

dbSNP: rs745472917
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001223611 SCV001395767 uncertain significance Neurofibromatosis, type 1 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 2726 of the NF1 protein (p.Asp2726Asn). The aspartic acid residue is moderately conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with NF1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Ambry Genetics RCV004557447 SCV003558765 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-04-01 criteria provided, single submitter clinical testing The c.8176G>A (p.D2726N) alteration is located in exon 56 (coding exon 56) of the NF1 gene. This alteration results from a G to A substitution at nucleotide position 8176, causing the aspartic acid (D) at amino acid position 2726 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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