ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.5003C>T (p.Thr1668Ile)

gnomAD frequency: 0.00001  dbSNP: rs1341078916
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001063490 SCV001228337 uncertain significance Bethlem myopathy 1 2019-05-21 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. This variant has not been reported in the literature in individuals with COL6A3-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with isoleucine at codon 1668 of the COL6A3 protein (p.Thr1668Ile). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and isoleucine.

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