ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.1548-19C>T

gnomAD frequency: 0.00044  dbSNP: rs144623242
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000128129 SCV000171721 benign not specified 2013-10-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000128129 SCV001337720 likely benign not specified 2023-05-08 criteria provided, single submitter clinical testing Variant summary: SLC2A10 c.1548-19C>T alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00039 in 281728 control chromosomes (gnomAD), predominantly reported within the European (non-Finnish) subpopulation with a frequency of 0.00069. This frequency is not higher than the estimated maximum expected for a pathogenic variant in SLC2A10 causing Aortopathy (0.0016), allowing no clear conclusions about variant significance. To our knowledge, no occurrence of c.1548-19C>T in individuals affected with Aortopathy and no experimental evidence demonstrating its impact on protein function have been reported. Another clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as likely benign.
Invitae RCV002055809 SCV002392278 likely benign Arterial tortuosity syndrome 2024-01-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002055809 SCV004562233 likely benign Arterial tortuosity syndrome 2023-09-05 criteria provided, single submitter clinical testing

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