ClinVar Miner

Submissions for variant NM_000302.4(PLOD1):c.1152C>T (p.Asp384=)

gnomAD frequency: 0.00003  dbSNP: rs771685198
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002315168 SCV000739560 likely benign Familial thoracic aortic aneurysm and aortic dissection 2017-10-13 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 RCV001476428 SCV001680636 likely benign Ehlers-Danlos syndrome, kyphoscoliotic type 1 2022-07-21 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000907031 SCV002035240 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000907031 SCV002037802 likely benign not provided no assertion criteria provided clinical testing

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