ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6293C>T (p.Ala2098Val)

dbSNP: rs764106639
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000220477 SCV000275798 uncertain significance Hereditary cancer-predisposing syndrome 2015-05-12 criteria provided, single submitter clinical testing The p.A2098V variant (also known as c.6293C>T), located in coding exon 42 of the NF1 gene, results from a C to T substitution at nucleotide position 6293. The alanine at codon 2098 is replaced by valine, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.002% (greater than 55000 alleles tested) in our clinical cohort.This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis.Since supporting evidence for this variant is limited at this time, the clinical significance of p.A2098Vremains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000541558 SCV000628702 likely benign Neurofibromatosis, type 1 2025-01-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000541558 SCV002560949 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004558523 SCV005048279 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-05-14 criteria provided, single submitter clinical testing The c.6230C>T (p.A2077V) alteration is located in exon 41 (coding exon 41) of the NF1 gene. This alteration results from a C to T substitution at nucleotide position 6230, causing the alanine (A) at amino acid position 2077 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV004725080 SCV005333495 uncertain significance not provided 2023-06-18 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 28786540)

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