ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.1327_1344del (p.Pro444_Leu449del) (rs1203564054)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671800 SCV000796820 likely pathogenic Alport syndrome, autosomal recessive 2018-01-08 criteria provided, single submitter clinical testing
Invitae RCV001379394 SCV001577190 likely pathogenic not provided 2020-10-09 criteria provided, single submitter clinical testing This variant, c.1327_1344del, results in the deletion of 6 amino acid(s) of the COL4A4 protein (p.Pro444_Leu449del), but otherwise preserves the integrity of the reading frame. 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 conditions. ClinVar contains an entry for this variant (Variation ID: 555889). A different variant (c.1323_1340del) giving rise to the same protein effect observed here (p.Pro444_Leu449del) has been determined to be pathogenic (PMID: 9792860, 30745910, 25307543, 27281700). This suggests that this variant is also likely to be causative of disease. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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