ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.5371-8T>C

gnomAD frequency: 0.00002  dbSNP: rs1352923765
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Total submissions: 5
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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 RCV001280963 SCV001468337 uncertain significance Ehlers-Danlos syndrome, classic type 2020-05-11 criteria provided, single submitter clinical testing COL5A1 NM_000093.4 exon 66 c.5371-8T>C: This variant has not been reported in the literature but is present in 0.002% (1/34588) of Latino alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/9-137733995-T-C?dataset=gnomad_r2_1). This variant is present in ClinVar (Variation ID:529301). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is an intronic variant with no predicted change in the amino acid sequence but may have an unknown effect on splicing. 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 RCV002060726 SCV001671518 likely benign Ehlers-Danlos syndrome, classic type, 1 2024-09-26 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV002060726 SCV002496071 uncertain significance Ehlers-Danlos syndrome, classic type, 1 2021-10-15 criteria provided, single submitter clinical testing COL5A1 NM_000093.3 intron 65 c.5371-8T>C: This variant has not been reported in the literature but is present in 0.004% (3/68022) of European alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/9-134842149-T-C?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:529301). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is an intronic variant with no predicted change in the amino acid sequence but may have an unknown effect on splicing. 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.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224356 SCV003919838 uncertain significance Ehlers-Danlos syndrome, classic type, 1; Fibromuscular dysplasia, multifocal 2021-03-30 criteria provided, single submitter clinical testing COL5A1 NM_000093.4 exon 66 c.5371-8T>C: This variant has not been reported in the literature but is present in 0.002% (1/34588) of Latino alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/9-137733995-T-C?dataset=gnomad_r2_1). This variant is present in ClinVar (Variation ID:529301). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is an intronic variant with no predicted change in the amino acid sequence but may have an unknown effect on splicing. 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003403456 SCV004122293 uncertain significance not specified 2023-10-29 criteria provided, single submitter clinical testing

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