ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7317AGC[1] (p.Ala2441del)

dbSNP: rs1085307506
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489937 SCV000576602 likely pathogenic not provided 2017-04-26 criteria provided, single submitter clinical testing The c.7256_7258delCAG variant has been reported previously in association with neurofibromatosis type 1 (Pasmant et al., 2015). The deletion results in an in-frame deletion of the conserved Alanine at residue 2420, denoted p.Ala2420del. In silico analysis predicts this variant is probably damaging to the protein structure/function. Additionally, this codon is the final codon of exon 48, and the deletion of these nucleotides may have an effect on splicing. However, in silico splice prediction models are inconsistent in their predictions as to whether or not the variant is damaging to the splice donor site. The variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). In summary, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001290811 SCV001478970 likely pathogenic Neurofibromatosis, type 1 2020-10-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001290811 SCV004296806 uncertain significance Neurofibromatosis, type 1 2024-10-29 criteria provided, single submitter clinical testing This variant, c.7256_7258del, results in the deletion of 1 amino acid(s) of the NF1 protein (p.Ala2420del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with neurofibromatosis type 1 (PMID: 25074460). ClinVar contains an entry for this variant (Variation ID: 426216). 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.

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