ClinVar Miner

Submissions for variant NM_000091.4(COL4A3):c.1201G>A (p.Gly401Arg) (rs1559878824)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000681888 SCV000841112 likely pathogenic not provided 2018-05-04 criteria provided, single submitter clinical testing
Invitae RCV000681888 SCV001557861 uncertain significance not provided 2020-07-30 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 401 of the COL4A3 protein (p.Gly401Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of Alport syndrome (Invitae). ClinVar contains an entry for this variant (Variation ID: 562416). 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 COL4A3 protein function. 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.
Gharavi Laboratory,Columbia University RCV000681888 SCV000809367 likely pathogenic not provided 2018-09-16 no assertion criteria provided research

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