ClinVar Miner

Submissions for variant NM_000302.4(PLOD1):c.534C>T (p.Ser178=)

gnomAD frequency: 0.00006  dbSNP: rs113384442
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002315148 SCV000739528 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-04-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Invitae RCV001488444 SCV001692961 likely benign Ehlers-Danlos syndrome, kyphoscoliotic type 1 2024-01-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003917985 SCV004730711 likely benign PLOD1-related condition 2019-05-01 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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