ClinVar Miner

Submissions for variant NM_001354483.2(CSGALNACT1):c.703G>T (p.Glu235Ter)

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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 RCV003710897 SCV004482125 pathogenic not provided 2023-11-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu235*) in the CSGALNACT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CSGALNACT1 are known to be pathogenic (PMID: 21148564, 27599773, 31325655). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CSGALNACT1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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