ClinVar Miner

Submissions for variant NM_000092.4(COL4A4):c.3861delinsCTC (p.Arg1288fs) (rs1575895541)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000815661 SCV000956124 pathogenic not provided 2018-08-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1288Serfs*101) in the COL4A4 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with COL4A4-related disease. Loss-of-function variants in COL4A4 are known to be pathogenic (PMID: 11961012, 14582039, 19129241, 21196518, 24052634, 24522496, 24854265, 25307543, 26809805, 27281700). For these reasons, this variant has been classified as Pathogenic.
Athena Diagnostics Inc RCV000815661 SCV001143238 likely pathogenic not provided 2018-09-25 criteria provided, single submitter clinical testing The variant results in a shift of the reading frame, and is therefore predicted to significantly disrupt the protein structure. Not found in the total gnomAD dataset, and the data is high quality (0/276122 chr).
Division of Nephrology,Beth Israel Deaconess Medical Center RCV000859981 SCV000920873 likely pathogenic Alport syndrome, autosomal recessive no assertion criteria provided provider interpretation The c.3861delinsCTC variant in COL4A4 was observed along with another COL4A4 variant, c.4708G>A, in a female patient with clinical and renal biopsy findings consistent with Alport Syndrome. This patient was interpreted as being compound heterozygous for variants causing autosomal recessive Alport Syndrome. This patient had a relatively mild phenotype. This case manuscript is under revision for publication.

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