ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.3252A>T (p.Glu1084Asp)

gnomAD frequency: 0.00001  dbSNP: rs766420056
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001757175 SCV001996744 uncertain significance not provided 2024-04-11 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Occurs in the triple helical domain at the X position in the canonical Gly-X-Y repeat; although this variant may have an effect on normal protein folding and function, missense substitution at the X position is not a common mechanism of disease
Fulgent Genetics, Fulgent Genetics RCV002477956 SCV002776206 uncertain significance Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign familial hematuria 2021-12-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001757175 SCV003470270 uncertain significance not provided 2021-10-22 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with aspartic acid at codon 1084 of the COL4A3 protein (p.Glu1084Asp). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. This variant is present in population databases (rs766420056, ExAC 0.003%). This variant has not been reported in the literature in individuals with COL4A3-related conditions. 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.

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