ClinVar Miner

Submissions for variant NM_032888.4(COL27A1):c.3157C>T (p.Arg1053Ter)

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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 RCV003839373 SCV004638443 pathogenic not provided 2023-09-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with COL27A1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg1053*) in the COL27A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL27A1 are known to be pathogenic (PMID: 24986830, 28276056).
CeGaT Center for Human Genetics Tuebingen RCV003839373 SCV005041227 uncertain significance not provided 2024-04-01 criteria provided, single submitter clinical testing COL27A1: PM2

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