ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.2093A>G (p.Lys698Arg)

gnomAD frequency: 0.00021  dbSNP: rs375318302
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517961 SCV000612933 uncertain significance not specified 2016-12-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476039 SCV000894811 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 2024-02-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001851434 SCV002111777 uncertain significance not provided 2024-12-07 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 698 of the COL4A1 protein (p.Lys698Arg). This variant is present in population databases (rs375318302, gnomAD 0.05%), and has an allele count higher than expected for a pathogenic variant. This missense change has been observed in individual(s) with lacunar stroke (PMID: 31719132). ClinVar contains an entry for this variant (Variation ID: 447160). 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.

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