ClinVar Miner

Submissions for variant NM_001846.4(COL4A2):c.812C>T (p.Pro271Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003312274 SCV004010258 uncertain significance not provided 2023-04-01 criteria provided, single submitter clinical testing COL4A2: PM2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004701033 SCV005204284 uncertain significance not specified 2024-06-13 criteria provided, single submitter clinical testing Variant summary: COL4A2 c.812C>T (p.Pro271Leu) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 249482 control chromosomes. 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.812C>T in individuals affected with Porencephaly 2 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 2570873). Based on the evidence outlined above, the variant was classified as uncertain significance.

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