ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.1885C>G (p.Pro629Ala)

gnomAD frequency: 0.00003  dbSNP: rs769408707
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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 RCV001906277 SCV002174575 uncertain significance not provided 2023-09-17 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 629 of the COL4A1 protein (p.Pro629Ala). This variant is present in population databases (rs769408707, gnomAD 0.0009%). 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: 1401342). 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.
Fulgent Genetics, Fulgent Genetics RCV002482784 SCV002778546 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 2022-04-29 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001906277 SCV003828171 uncertain significance not provided 2019-02-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001906277 SCV004702659 uncertain significance not provided 2023-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004975823 SCV005568948 uncertain significance Inborn genetic diseases 2024-10-11 criteria provided, single submitter clinical testing The c.1885C>G (p.P629A) alteration is located in exon 26 (coding exon 26) of the COL4A1 gene. This alteration results from a C to G substitution at nucleotide position 1885, causing the proline (P) at amino acid position 629 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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