ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.5C>T (p.Ala2Val)

gnomAD frequency: 0.00001  dbSNP: rs1589969719
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000824588 SCV000965491 uncertain significance Gorlin syndrome; Medulloblastoma 2018-12-07 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 2 of the SUFU protein (p.Ala2Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with SUFU-related conditions. 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: "Tolerated"; PolyPhen-2: "Possibly 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.

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