ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.5137-8C>T

gnomAD frequency: 0.00017  dbSNP: rs374377228
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001280964 SCV001468339 uncertain significance Ehlers-Danlos syndrome, classic type 2020-08-03 criteria provided, single submitter clinical testing COL5A1 NM_000093.4 exon 65 c.5137-8C>T: This variant has not been reported in the literature but is present in 0.04% (11/24546) of African alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/9-137726809-C-T). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Although this variant occurs in the splice region, computational prediction tools do not suggest that it alters splicing. However, further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV002241658 SCV001711097 likely benign Ehlers-Danlos syndrome, classic type, 1 2023-10-10 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224541 SCV003919836 uncertain significance Ehlers-Danlos syndrome, classic type, 1; Fibromuscular dysplasia, multifocal criteria provided, single submitter clinical testing COL5A1 NM_000093.4 exon 65 c.5137-8C>T: This variant has not been reported in the literature but is present in 0.04% (11/24546) of African alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/9-137726809-C-T). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Although this variant occurs in the splice region, computational prediction tools do not suggest that it alters splicing. However, further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain

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