ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.2354C>T (p.Pro785Leu)

gnomAD frequency: 0.00004  dbSNP: rs760539229
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197703 SCV000249805 uncertain significance not provided 2020-09-11 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Occurs in the triple helical domain at the X position in the canonical Gly-X-Y repeat; although this variant may have an effect on normal protein folding and function, missense substitution at the {X/Y} position is not a common mechanism of disease (Symoens et al., 2012; Stenson et al., 2014)
Labcorp Genetics (formerly Invitae), Labcorp RCV002229452 SCV000631467 benign Ehlers-Danlos syndrome, classic type, 1 2024-11-16 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000536311 SCV000898628 uncertain significance Ehlers-Danlos syndrome, classic type 2018-11-12 criteria provided, single submitter clinical testing COL5A1 NM_000093.4 exon 27 p.Pro785Leu (c.2354C>T): This variant has not been reported in the literature and is present in 0.009% (3/30444) of South Asian alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/9-137666727-C-T). This variant is present in ClinVar (Variation ID:212949). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. 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 RCV003224217 SCV003919830 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 27 p.Pro785Leu (c.2354C>T): This variant has not been reported in the literature and is present in 0.009% (3/30444) of South Asian alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/9-137666727-C-T). This variant is present in ClinVar (Variation ID:212949). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
CeGaT Center for Human Genetics Tuebingen RCV000197703 SCV004156742 uncertain significance not provided 2023-02-01 criteria provided, single submitter clinical testing

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