ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.1605C>A (p.Phe535Leu)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002470031 SCV002766177 uncertain significance not specified 2022-11-09 criteria provided, single submitter clinical testing Variant summary: COL4A1 c.1605C>A (p.Phe535Leu) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 6e-05 in 251330 control chromosomes. To our knowledge, no occurrence of c.1605C>A in individuals affected with Porencephaly 1 and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV002571444 SCV003247025 likely benign not provided 2024-10-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005002843 SCV005632437 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 2023-12-22 criteria provided, single submitter clinical testing

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