ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.2160_2163dup (p.Gly722fs)

dbSNP: rs1976595425
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001383112 SCV001582137 pathogenic not provided 2020-09-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in COL4A4 are known to be pathogenic (PMID: 21196518, 24854265, 25307543). This variant has not been reported in the literature in individuals with COL4A4-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gly722Thrfs*6) in the COL4A4 gene. It is expected to result in an absent or disrupted protein product.
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001280829 SCV001468170 likely pathogenic Autosomal dominant Alport syndrome 2020-01-07 no assertion criteria provided clinical testing

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