ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.3999_4000delinsGC (p.Gly1334Arg)

dbSNP: rs797044765
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179170 SCV000231373 uncertain significance not provided 2014-12-16 criteria provided, single submitter clinical testing
Invitae RCV000179170 SCV002137054 uncertain significance not provided 2023-12-26 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1334 of the COL11A2 protein (p.Gly1334Arg). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with COL11A2-related conditions. ClinVar contains an entry for this variant (Variation ID: 197984). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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