ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.2014G>A (p.Asp672Asn)

gnomAD frequency: 0.00031  dbSNP: rs143663917
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597009 SCV000702649 uncertain significance not provided 2016-11-01 criteria provided, single submitter clinical testing
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center RCV001375271 SCV001571797 uncertain significance Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PP3_Strong
Invitae RCV000597009 SCV001597533 likely benign not provided 2024-01-15 criteria provided, single submitter clinical testing
GeneDx RCV000597009 SCV002820548 uncertain significance not provided 2022-12-27 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
Ambry Genetics RCV002531005 SCV003728542 uncertain significance Inborn genetic diseases 2021-08-09 criteria provided, single submitter clinical testing The c.2014G>A (p.D672N) alteration is located in exon 22 (coding exon 22) of the COL11A1 gene. This alteration results from a G to A substitution at nucleotide position 2014, causing the aspartic acid (D) at amino acid position 672 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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