ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.415G>A (p.Gly139Ser)

gnomAD frequency: 0.00001  dbSNP: rs749386499
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000300016 SCV000344493 uncertain significance not provided 2016-08-04 criteria provided, single submitter clinical testing
GeneDx RCV000300016 SCV002583986 uncertain significance not provided 2022-04-13 criteria provided, single submitter clinical testing Reported in a patient with early onset dystonia; however, an additional potentially disease-causing variant was identified (Xu et al., 2020); In silico analysis supports that this missense variant does not alter protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30564623, 32243914)
Labcorp Genetics (formerly Invitae), Labcorp RCV005090400 SCV005773353 likely benign Bethlem myopathy 1A 2024-02-16 criteria provided, single submitter clinical testing

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