ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.8634_8651del (p.2875_2880KPVTTT[1]) (rs780678900)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000492818 SCV000581724 uncertain significance not provided 2017-04-20 criteria provided, single submitter clinical testing The c.8634_8651del18 variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.8634_8651del18 variant results in an in-frame deletion of six amino acids, denoted p.Lys2881_Thr2886del. However, this variant is not predicted to cause loss of normal protein function through protein truncation or nonsense-mediated mRNA decay.
Invitae RCV000813586 SCV000953952 uncertain significance Bethlem myopathy 1 2019-10-30 criteria provided, single submitter clinical testing This variant, c.8634_8651delTACGACGAAGCCGGTGAC, results in the deletion of 6 amino acid(s) of the COL6A3 protein (p.Lys2881_Thr2886del), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with COL6A3-related conditions. ClinVar contains an entry for this variant (Variation ID: 429218). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. 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.

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