ClinVar Miner

Submissions for variant NM_032888.4(COL27A1):c.3439G>T (p.Gly1147Ter)

gnomAD frequency: 0.00001  dbSNP: rs1328051341
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332720 SCV001525116 likely pathogenic Steel syndrome 2020-11-30 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001865766 SCV002232039 pathogenic not provided 2023-04-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1031005). This variant has not been reported in the literature in individuals affected with COL27A1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Gly1147*) 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).

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