ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.730A>T (p.Ile244Phe)

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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 RCV002643888 SCV003511606 likely benign not provided 2024-07-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004690374 SCV005186103 uncertain significance not specified 2024-05-01 criteria provided, single submitter clinical testing Variant summary: COL4A5 c.730A>T (p.Ile244Phe) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 1.1e-05 in 183247 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.730A>T in individuals affected with X-Linked Alport Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 2193026). Based on the evidence outlined above, the variant was classified as uncertain significance.

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