ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.2126C>T (p.Pro709Leu)

gnomAD frequency: 0.00025  dbSNP: rs150129180
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000348002 SCV000382451 uncertain significance Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000400699 SCV000382452 uncertain significance Porencephalic cyst 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV002248573 SCV000382453 uncertain significance Brain small vessel disease 1 with or without ocular anomalies 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000880929 SCV001024059 benign not provided 2024-12-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000880929 SCV001149086 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing COL4A1: BP4, BS2
GeneDx RCV000880929 SCV002504341 uncertain significance not provided 2024-10-21 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Occurs in the triple helical domain at the X position in the canonical Gly-X-Y repeat; although this variant may have an effect on normal protein folding and function, missense substitution at the X position is not a common mechanism of disease; In silico analysis indicates that this missense variant does not alter protein structure/function
Ambry Genetics RCV004975431 SCV005568940 likely benign Inborn genetic diseases 2024-10-09 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.

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