ClinVar Miner

Submissions for variant NM_001369268.1(ACAN):c.185C>A (p.Thr62Asn)

gnomAD frequency: 0.00040  dbSNP: rs200239326
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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) RCV000294749 SCV000337434 uncertain significance not provided 2017-11-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000294749 SCV002474947 likely benign not provided 2025-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000294749 SCV002498913 uncertain significance not provided 2021-10-11 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002518947 SCV003553994 uncertain significance Inborn genetic diseases 2021-06-18 criteria provided, single submitter clinical testing The c.185C>A (p.T62N) alteration is located in exon 3 (coding exon 2) of the ACAN gene. This alteration results from a C to A substitution at nucleotide position 185, causing the threonine (T) at amino acid position 62 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004767214 SCV005381091 uncertain significance not specified 2024-08-14 criteria provided, single submitter clinical testing Variant summary: ACAN c.185C>A (p.Thr62Asn) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00045 in 249208 control chromosomes. This frequency is not significantly higher than estimated for a pathogenic variant in ACAN causing ACAN-Related Disorders, allowing no conclusion about variant significance. To our knowledge, no occurrence of c.185C>A in individuals affected with ACAN-Related Disorders and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 284706). Based on the evidence outlined above, the variant was classified as uncertain significance.

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