ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.401C>T (p.Pro134Leu)

gnomAD frequency: 0.00037  dbSNP: rs140517831
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001546271 SCV001765763 likely benign not provided 2021-06-03 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV001546271 SCV002351878 likely benign not provided 2025-01-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001546271 SCV004135624 benign not provided 2025-01-01 criteria provided, single submitter clinical testing COL4A1: BS1, BS2
Myllykangas group, University of Helsinki RCV001263180 SCV001250692 uncertain significance Vascular dementia 2020-04-01 no assertion criteria provided research
PreventionGenetics, part of Exact Sciences RCV004545051 SCV004774206 likely benign COL4A1-related disorder 2019-07-11 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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