ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.2245C>T (p.Pro749Ser)

dbSNP: rs1664593626
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262563 SCV001440484 likely benign Marshall syndrome 2019-01-01 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous.
Labcorp Genetics (formerly Invitae), Labcorp RCV005094254 SCV005758272 uncertain significance not provided 2024-07-06 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 749 of the COL11A1 protein (p.Pro749Ser). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with COL11A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 982851). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt COL11A1 protein function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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