ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.7660G>A (p.Ala2554Thr) (rs786205870)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699713 SCV000828436 uncertain significance Bethlem myopathy 1 2018-04-11 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 2554 of the COL6A3 protein (p.Ala2554Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in combination with another COL6A3 variant in an individual affected with isolated dystonia (PMID: 26004199). ClinVar contains an entry for this variant (Variation ID: 192260). 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"; 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.
OMIM RCV000172848 SCV000223817 pathogenic Dystonia 27 2015-06-04 no assertion criteria provided literature only

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