ClinVar Miner

Submissions for variant NM_000821.7(GGCX):c.1987C>T (p.Gln663Ter)

dbSNP: rs1691898752
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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 RCV003698858 SCV004459927 pathogenic not provided 2024-01-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln663*) in the GGCX gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GGCX are known to be pathogenic (PMID: 17110937, 17327402, 24520408). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with GGCX-related conditions. ClinVar contains an entry for this variant (Variation ID: 992374). For these reasons, this variant has been classified as Pathogenic.
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001280813 SCV001468152 likely pathogenic Vitamin K-dependent clotting factors, combined deficiency of, type 1 2020-06-17 no assertion criteria provided clinical testing

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