ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.4069G>T (p.Gly1357Trp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002853713 SCV003606594 uncertain significance Inborn genetic diseases 2022-04-12 criteria provided, single submitter clinical testing The c.4069G>T (p.G1357W) alteration is located in exon 46 (coding exon 46) of the COL4A1 gene. This alteration results from a G to T substitution at nucleotide position 4069, causing the glycine (G) at amino acid position 1357 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005002991 SCV005632863 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 2024-05-15 criteria provided, single submitter clinical testing

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