ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.1059A>T (p.Lys353Asn)

gnomAD frequency: 0.00006  dbSNP: rs572826781
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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 RCV001937296 SCV002131918 benign not provided 2023-03-08 criteria provided, single submitter clinical testing
GeneDx RCV001937296 SCV002568549 uncertain significance not provided 2022-02-23 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); 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 (Acke et al., 2014)
Ambry Genetics RCV004980801 SCV005557909 uncertain significance Inborn genetic diseases 2024-07-27 criteria provided, single submitter clinical testing The c.1059A>T (p.K353N) alteration is located in exon 8 (coding exon 8) of the COL11A1 gene. This alteration results from a A to T substitution at nucleotide position 1059, causing the lysine (K) at amino acid position 353 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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