ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.367C>T (p.Pro123Ser)

gnomAD frequency: 0.00028  dbSNP: rs138503916
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000981670 SCV001129653 likely benign not provided 2024-12-24 criteria provided, single submitter clinical testing
GeneDx RCV000981670 SCV003805968 uncertain significance not provided 2023-02-06 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV000981670 SCV003828174 likely benign not provided 2024-01-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV004973224 SCV005568947 likely benign Inborn genetic diseases 2024-10-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV004543661 SCV004767881 likely benign COL4A1-related disorder 2022-11-08 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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