ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.3223C>T (p.Pro1075Ser)

gnomAD frequency: 0.00001  dbSNP: rs780691085
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001797306 SCV002038750 uncertain significance not provided 2021-06-18 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27535533)
Labcorp Genetics (formerly Invitae), Labcorp RCV001797306 SCV002128845 uncertain significance not provided 2024-05-27 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1075 of the COL4A1 protein (p.Pro1075Ser). This variant is present in population databases (rs780691085, gnomAD 0.007%). 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: 1328674). 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 disruptive. 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 RCV002503284 SCV002783408 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 2022-03-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV004611879 SCV005103919 uncertain significance Inborn genetic diseases 2024-03-18 criteria provided, single submitter clinical testing The c.3223C>T (p.P1075S) alteration is located in exon 38 (coding exon 38) of the COL4A1 gene. This alteration results from a C to T substitution at nucleotide position 3223, causing the proline (P) at amino acid position 1075 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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