ClinVar Miner

Submissions for variant NM_001846.4(COL4A2):c.313G>A (p.Val105Met)

gnomAD frequency: 0.00001  dbSNP: rs772439696
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000784946 SCV000923489 uncertain significance Porencephaly 2 2019-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002536877 SCV003298044 uncertain significance not provided 2023-06-29 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 634465). This variant has not been reported in the literature in individuals affected with COL4A2-related conditions. This variant is present in population databases (rs772439696, gnomAD 0.007%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 105 of the COL4A2 protein (p.Val105Met).

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