ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5227G>C (p.Ala1743Pro)

dbSNP: rs878853900
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000229118 SCV000284475 uncertain significance Neurofibromatosis, type 1 2024-01-09 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 1722 of the NF1 protein (p.Ala1722Pro). This variant is present in population databases (no rsID available, gnomAD 0.003%). This missense change has been observed in individual(s) with midaortic syndrome (PMID: 29483232). ClinVar contains an entry for this variant (Variation ID: 237573). 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 expected to disrupt NF1 protein function with a positive predictive value of 95%. 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 RCV002318968 SCV001185555 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-02-28 criteria provided, single submitter clinical testing The p.A1722P variant (also known as c.5164G>C), located in coding exon 36 of the NF1 gene, results from a G to C substitution at nucleotide position 5164. The alanine at codon 1722 is replaced by proline, an amino acid with highly 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 RCV000229118 SCV002560525 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Yale Center for Mendelian Genomics, Yale University RCV000845194 SCV000987130 likely pathogenic Atypical coarctation of aorta 2018-02-26 no assertion criteria provided literature only

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