ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.2516C>T (p.Pro839Leu)

gnomAD frequency: 0.00001  dbSNP: rs763434858
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001890046 SCV002142867 uncertain significance not provided 2024-04-29 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 839 of the COL4A1 protein (p.Pro839Leu). This variant is present in population databases (rs763434858, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with COL4A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1377983). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
PreventionGenetics, part of Exact Sciences RCV004538571 SCV004120691 uncertain significance COL4A1-related disorder 2022-08-24 criteria provided, single submitter clinical testing The COL4A1 c.2516C>T variant is predicted to result in the amino acid substitution p.Pro839Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0035% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/13-110830521-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Fulgent Genetics, Fulgent Genetics RCV005006136 SCV005632906 uncertain significance Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome; Brain small vessel disease 1 with or without ocular anomalies; Hemorrhage, intracerebral, susceptibility to; Retinal arterial tortuosity; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 2024-03-28 criteria provided, single submitter clinical testing

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