ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.749C>T (p.Pro250Leu)

dbSNP: rs556805686
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001284983 SCV001471085 uncertain significance Ehlers-Danlos syndrome, classic type, 2 2020-01-06 criteria provided, single submitter clinical testing The COL5A2 c.749C>T; p.Pro250Leu variant (rs556805686), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the general population with an overall allele frequency of 0.0094% (23/245866 alleles) in the Genome Aggregation Database. The proline at codon 250 is highly conserved, and computational analyses (SIFT: tolerated, PolyPhen-2: probably damaging) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of the p.Pro250Leu variant is uncertain at this time.
Labcorp Genetics (formerly Invitae), Labcorp RCV002069509 SCV002349777 likely benign Ehlers-Danlos syndrome, classic type, 1 2024-11-13 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276675 SCV002565851 likely benign Ehlers-Danlos syndrome 2021-09-07 criteria provided, single submitter clinical testing
GeneDx RCV003156335 SCV003845674 uncertain significance not provided 2022-09-21 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV004749643 SCV005352827 likely benign COL5A2-related disorder 2024-07-31 no assertion criteria provided 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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