ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.3779C>A (p.Ala1260Glu)

gnomAD frequency: 0.00003  dbSNP: rs750838060
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000513193 SCV000608487 uncertain significance not provided 2017-03-01 criteria provided, single submitter clinical testing
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center RCV001375462 SCV001572135 uncertain significance Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PM2_Moderate
Invitae RCV000513193 SCV002278901 likely benign not provided 2022-11-28 criteria provided, single submitter clinical testing
GeneDx RCV000513193 SCV003918412 uncertain significance not provided 2023-04-06 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 has a deleterious effect on protein structure/function; Occurs in the triple helical domain at the Y position in the canonical Gly-X-Y repeat; although this variant may have an effect on normal protein folding and function, missense substitution at the Y position is not a common mechanism of disease

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