ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.4650A>T (p.Pro1550=)

dbSNP: rs778312075
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755966 SCV000883655 likely benign not provided 2018-02-27 criteria provided, single submitter clinical testing The c.4650A>T; p.Pro1550Pro variant (rs778312075) does not alter the amino acid sequence of the COL5A1 protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant has not been reported in association with Ehlers-Danlos syndrome in medical literature or in gene specific variation databases. This variant is listed in the genome Aggregation Database (gnomAD) with an overall population frequency of 0.001% (identified on 3 out of 277,214 chromosomes). Based on the available information, the c.4650A>T variant is likely to be benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV002233747 SCV001633622 likely benign Ehlers-Danlos syndrome, classic type, 1 2024-12-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000755966 SCV001962595 likely benign not provided 2021-09-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004027121 SCV005032402 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-11-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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