ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.5339C>A (p.Pro1780His)

gnomAD frequency: 0.00002  dbSNP: rs746104317
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519699 SCV000617188 uncertain significance not provided 2019-02-25 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016; McVean et al., 2012; Exome Variant Server); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; Not located in the triple helical region, where the majority of pathogenic missense variants occur
Labcorp Genetics (formerly Invitae), Labcorp RCV002231205 SCV000945965 likely benign Ehlers-Danlos syndrome, classic type, 1 2023-04-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002350147 SCV002643250 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2020-06-17 criteria provided, single submitter clinical testing The p.P1780H variant (also known as c.5339C>A), located in coding exon 65 of the COL5A1 gene, results from a C to A substitution at nucleotide position 5339. The proline at codon 1780 is replaced by histidine, an amino acid with similar properties. This amino acid position is highly 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.
Fulgent Genetics, Fulgent Genetics RCV002497010 SCV002778731 uncertain significance Ehlers-Danlos syndrome, classic type, 1; Fibromuscular dysplasia, multifocal 2021-10-29 criteria provided, single submitter clinical testing

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