ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.1187C>T (p.Pro396Leu)

gnomAD frequency: 0.00001  dbSNP: rs755654519
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000813485 SCV000953846 likely benign Arterial tortuosity syndrome 2024-05-08 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001527009 SCV001737822 uncertain significance not specified 2021-05-24 criteria provided, single submitter clinical testing Variant summary: SLC2A10 c.1187C>T (p.Pro396Leu) results in a non-conservative amino acid change located in the Major facilitator superfamily domain (IPR020846) of the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00013 in 250702 control chromosomes, predominantly at a frequency of 0.00095 within the Latino subpopulation in the gnomAD database. This frequency is not higher than expected for a pathogenic variant in SLC2A10 causing Arterial Tortuosity Syndrome (0.00095 vs 0.0016), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.1187C>T in individuals affected with Arterial Tortuosity Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. A ClinVar submitter (evaluation after 2014) cites the variant as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance.

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