ClinVar Miner

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

dbSNP: rs1575895541
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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 Autosomal recessive Alport syndrome 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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