ClinVar Miner

Submissions for variant NM_001846.4(COL4A2):c.1268G>A (p.Gly423Asp)

dbSNP: rs2139481315
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002025678 SCV002293893 uncertain significance not provided 2021-09-29 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt COL4A2 protein function. This variant has been observed in individual(s) with clinical features of brain small vessel disease (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with aspartic acid at codon 423 of the COL4A2 protein (p.Gly423Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid.

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