ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.454G>A (p.Ala152Thr)

dbSNP: rs2065795636
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001058604 SCV001223188 uncertain significance Neurofibromatosis, type 1 2023-10-30 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 152 of the NF1 protein (p.Ala152Thr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 853732). 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811636 SCV002048706 uncertain significance not provided 2020-12-17 criteria provided, single submitter clinical testing The NF1 c.454G>A; p.Ala152Thr variant, to our knowledge, is not reported in the medical literature but is listed in the ClinVar database (Variation ID: 853732). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The alanine at codon 152 is highly conserved but computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.579). Due to limited information, the clinical significance of the p.Ala152Thr variant is uncertain at this time.
Genome-Nilou Lab RCV001058604 SCV002561461 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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