ClinVar Miner

Submissions for variant NM_018344.6(SLC29A3):c.1090C>T (p.Gln364Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004577176 SCV005061067 uncertain significance H syndrome criteria provided, single submitter clinical testing The observed stop gain c.1090C>T(p.Gln364Ter) variant has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1090C>T variant is absent in gnomAD Exomes database. This variant has not been submitted to the ClinVar database. The nucleotide change c.1090C>T in SLC29A3 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. Loss of function variants have been previously reported to be disease causing. However since this variant is present in the last exon, functional studies will be required to prove protein truncation. Hence the variant is classified as Variant of Uncertain Significance (VUS).

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