ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.4943A>G (p.Asp1648Gly)

gnomAD frequency: 0.00001  dbSNP: rs746071518
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002229649 SCV000283498 benign Ehlers-Danlos syndrome, classic type, 1 2024-06-15 criteria provided, single submitter clinical testing
GeneDx RCV001578244 SCV001805798 uncertain significance not provided 2022-05-18 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not located in the triple helical region, where the majority of pathogenic missense variants occur (Symoens et al., 2012; Stenson et al., 2014); Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002338702 SCV002642574 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2020-12-31 criteria provided, single submitter clinical testing The p.D1648G variant (also known as c.4943A>G), located in coding exon 62 of the COL5A1 gene, results from an A to G substitution at nucleotide position 4943. The aspartic acid at codon 1648 is replaced by glycine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GenomeConnect, ClinGen RCV000233786 SCV002075134 not provided Ehlers-Danlos syndrome, classic type no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 11-12-2019 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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