ClinVar Miner

Submissions for variant NM_001853.4(COL9A3):c.701G>C (p.Arg234Pro)

dbSNP: rs150885737
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001320839 SCV001511642 likely benign not provided 2025-01-20 criteria provided, single submitter clinical testing
GeneDx RCV001320839 SCV001874820 uncertain significance not provided 2024-04-29 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 27535533)
PreventionGenetics, part of Exact Sciences RCV003405542 SCV004115079 uncertain significance COL9A3-related disorder 2023-08-03 criteria provided, single submitter clinical testing The COL9A3 c.701G>C variant is predicted to result in the amino acid substitution p.Arg234Pro. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.20% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/20-61457572-G-C). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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