ClinVar Miner

Submissions for variant NC_000009.12:g.(?_134834951)_(134835224_?)del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000634701 SCV000756036 likely pathogenic Ehlers-Danlos syndrome, classic type 2017-10-28 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exon 65 of the COL5A1 gene. It preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals with COL5A1-related disease. However, a splice variant giving rise to an exon 65 skipping has been reported segregating with disease in a family affected with Ehlers-Danlos syndrome (PMID: 8923000). A variant involving an amino acid deletion in this exon (p.Ser1714del) has been determined to be pathogenic (Invitae). This suggests that this codon is critical for COL5A1 protein function and that a deletion of exon 65 may also be pathogenic. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001860496 SCV002110439 likely pathogenic Ehlers-Danlos syndrome, classic type, 1 2017-09-20 criteria provided, single submitter clinical testing A variant involving an amino acid deletion in this exon (p.Ser1714del) has been determined to be pathogenic (Invitae). This suggests that this codon is critical for COL5A1 protein function and that a deletion of exon 65 may also be pathogenic. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant is an in-frame deletion of the genomic region encompassing exon 65 of the COL5A1 gene. It preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals with COL5A1-related disease. However, a splice variant giving rise to an exon 65 skipping has been reported segregating with disease in a family affected with Ehlers-Danlos syndrome (PMID: 8923000).

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