ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3449C>T (p.Ser1150Leu)

dbSNP: rs1555614972
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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 RCV001044396 SCV001208192 uncertain significance Neurofibromatosis, type 1 2019-12-18 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 1150 of the NF1 protein (p.Ser1150Leu). The serine residue is moderately conserved and there is a large physicochemical difference between serine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with neurofibromatosis (PMID: 16835897). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
GeneDx RCV001570393 SCV001794683 likely pathogenic not provided 2021-02-24 criteria provided, single submitter clinical testing Reported in a patient with neurofibromatosis type 1 in the literature (Lee et al., 2006); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 22155606, 16835897, 24803665)

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