ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.597G>A (p.Gln199=)

dbSNP: rs1060501112
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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 RCV000461774 SCV000544982 uncertain significance Gorlin syndrome; Medulloblastoma 2018-03-31 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with SUFU-related disease. ClinVar contains an entry for this variant (Variation ID: 406393). This variant is not present in population databases (ExAC no frequency). This sequence change affects codon 199 of the SUFU mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SUFU protein. This variant also falls at the last nucleotide of exon 4 of the SUFU coding sequence, which is part of the consensus splice site for this exon. Nucleotide substitutions within the consensus splice site are relatively common causes of aberrant splicing (PMID: 17576681, 9536098).

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