ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.3658C>T (p.Pro1220Ser)

gnomAD frequency: 0.00006  dbSNP: rs770554435
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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 RCV002231331 SCV000631599 likely benign Ehlers-Danlos syndrome, classic type, 1 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000541739 SCV000895373 uncertain significance Ehlers-Danlos syndrome, classic type 2018-10-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001093164 SCV001250013 uncertain significance not provided 2022-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001093164 SCV002002591 uncertain significance not provided 2023-11-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 33974636)
Ambry Genetics RCV002456081 SCV002617636 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-11-17 criteria provided, single submitter clinical testing The p.P1220S variant (also known as c.3658C>T), located in coding exon 51 of the COL5A2 gene, results from a C to T substitution at nucleotide position 3658. The proline at codon 1220 is replaced by serine, 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.

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