ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.1074C>T (p.Gly358=)

gnomAD frequency: 0.00003  dbSNP: rs561440698
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002235156 SCV001006145 likely benign Ehlers-Danlos syndrome, classic type, 1 2024-02-17 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000865213 SCV001327978 likely benign Ehlers-Danlos syndrome, classic type 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Mayo Clinic Laboratories, Mayo Clinic RCV001508650 SCV001714933 uncertain significance not provided 2020-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001508650 SCV001826941 uncertain significance not provided 2025-03-14 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports a deleterious effect on splicing; This variant is associated with the following publications: (PMID: 22696272)
GenomeConnect, ClinGen RCV002235156 SCV002818435 not provided Ehlers-Danlos syndrome, classic type, 1 no assertion provided phenotyping only Variant classified as Uncertain significance and reported on 05-13-2021 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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