ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.4362T>A (p.Asn1454Lys) (rs372170366)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV000232540 SCV000606951 not provided Ehlers-Danlos syndrome, classic type no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Invitae RCV000232540 SCV000284820 uncertain significance Ehlers-Danlos syndrome, classic type 2018-08-01 criteria provided, single submitter clinical testing This sequence change replaces asparagine with lysine at codon 1454 of the COL5A2 protein (p.Asn1454Lys). The asparagine residue is highly conserved and there is a moderate physicochemical difference between asparagine and lysine. This variant is present in population databases (rs372170366, ExAC 0.1%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has not been reported in the literature in individuals with a COL5A2-related disease. ClinVar contains an entry for this variant (Variation ID: 237777). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably damaging"; Align-GVGD: "Class C0"). In summary, this variant has uncertain impact on COL5A2 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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