ClinVar Miner

Submissions for variant NC_000003.12:g.(?_93879163)_(93879314_?)del

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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 RCV000470628 SCV000563988 pathogenic Thrombophilia due to protein S deficiency, autosomal recessive 2016-06-11 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 13 of the PROS1 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Truncating variants in PROS1 are known to be pathogenic. A similar deletion of exon 13 has been reported in the literature in two families with protein S deficiency (PMID: 1671337). For these reasons, this variant has been classified as Pathogenic.

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