ClinVar Miner

Submissions for variant NM_018389.5(SLC35C1):c.367del (p.Val123fs)

dbSNP: rs2085872592
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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 RCV001038135 SCV001201586 pathogenic Leukocyte adhesion deficiency type II 2019-12-04 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val123Serfs*5) in the SLC35C1 gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with SLC35C1-related conditions. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SLC35C1 are known to be pathogenic (PMID: 16455955, 24403049).

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