ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.4309A>T (p.Ile1437Phe) (rs144314743)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000546203 SCV000657313 uncertain significance Bethlem myopathy 1 2019-08-26 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with phenylalanine at codon 1437 of the COL6A3 protein (p.Ile1437Phe). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and phenylalanine. This variant is present in population databases (rs144314743, ExAC 0.008%). This variant has not been reported in the literature in individuals with COL6A3-related conditions. ClinVar contains an entry for this variant (Variation ID: 476523). 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: "Deleterious"; 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727675 SCV000854985 uncertain significance not provided 2017-10-04 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765643 SCV000896972 uncertain significance Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1; Dystonia 27 2018-10-31 criteria provided, single submitter clinical testing

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