ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.2975T>A (p.Met992Lys) (rs1567849596)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000680817 SCV000808264 likely pathogenic not provided 2018-07-16 criteria provided, single submitter clinical testing The M992K variant has been published previously in association with neurofibromatosis type 1 (Xu et al., 2014). The variant is not observed in large population cohorts (Lek et al., 2016). M992K is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. The variant is located within the GTPase activating domain (Xu et al., 1990; Luo et al., 2014). In summary, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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