ClinVar Miner

Submissions for variant NM_001846.4(COL4A2):c.398G>T (p.Gly133Val)

dbSNP: rs199551935
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002581766 SCV003487947 likely benign not provided 2025-01-06 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003138519 SCV003828183 uncertain significance Porencephaly 2 2023-11-22 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004587428 SCV005076842 uncertain significance not specified 2024-04-09 criteria provided, single submitter clinical testing Variant summary: COL4A2 c.398G>T (p.Gly133Val) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 5.9e-05 in 219394 control chromosomes (gnomAD). To our knowledge, no occurrence of c.398G>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: 2173147). Based on the evidence outlined above, the variant was classified as uncertain significance.
Ambry Genetics RCV004614358 SCV005103928 likely benign Inborn genetic diseases 2024-04-08 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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