ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.4709T>C (p.Leu1570Pro)

gnomAD frequency: 0.00008  dbSNP: rs558265763
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001940346 SCV002195188 benign not provided 2024-08-05 criteria provided, single submitter clinical testing
GeneDx RCV001940346 SCV002526239 uncertain significance not provided 2023-03-03 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; Not located in the triple helical region, where the majority of pathogenic missense variants occur (HGMD; Acke et al., 2014); This variant is associated with the following publications: (PMID: 25240749)
Fulgent Genetics, Fulgent Genetics RCV002491900 SCV002799772 uncertain significance Intervertebral disc disorder; Marshall syndrome; Stickler syndrome type 2; Fibrochondrogenesis 1; Hearing loss, autosomal dominant 37 2022-04-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004538616 SCV004115670 uncertain significance COL11A1-related disorder 2023-03-08 criteria provided, single submitter clinical testing The COL11A1 c.4709T>C variant is predicted to result in the amino acid substitution p.Leu1570Pro. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.055% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-103352512-A-G). 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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