ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.717C>T (p.Ile239=)

gnomAD frequency: 0.00002  dbSNP: rs775349013
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178848 SCV000231013 uncertain significance not provided 2014-07-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002515270 SCV002985823 uncertain significance Bethlem myopathy 1A 2022-02-19 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with COL6A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 197730). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 is present in population databases (rs775349013, gnomAD 0.01%). This sequence change affects codon 239 of the COL6A1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the COL6A1 protein. It affects a nucleotide within the consensus splice site.
CeGaT Center for Human Genetics Tuebingen RCV000178848 SCV004701125 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing COL6A1: BP4, BP7

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