ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.4192G>A (p.Ala1398Thr)

gnomAD frequency: 0.00003  dbSNP: rs759464073
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000338075 SCV000478570 uncertain significance Ehlers-Danlos syndrome type 7A 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002230722 SCV000945490 benign Ehlers-Danlos syndrome, classic type, 1 2023-10-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV003168577 SCV003913569 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-02-15 criteria provided, single submitter clinical testing The p.A1398T variant (also known as c.4192G>A), located in coding exon 54 of the COL5A1 gene, results from a G to A substitution at nucleotide position 4192. The alanine at codon 1398 is replaced by threonine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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