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
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
Invitae RCV000546203 SCV000657313 uncertain significance Bethlem myopathy 1 2018-07-06 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%) but has not been reported in the literature in individuals with a COL6A3-related disease. 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 is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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