ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.6541G>A (p.Asp2181Asn)

gnomAD frequency: 0.00006  dbSNP: rs368397177
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001228006 SCV001400387 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-22 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 2181 of the COL12A1 protein (p.Asp2181Asn). This variant is present in population databases (rs368397177, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with COL12A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 955379). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt COL12A1 protein function with a positive predictive value of 80%. 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.
Ambry Genetics RCV002563126 SCV003739677 uncertain significance Inborn genetic diseases 2021-11-16 criteria provided, single submitter clinical testing The c.6541G>A (p.D2181N) alteration is located in exon 40 (coding exon 39) of the COL12A1 gene. This alteration results from a G to A substitution at nucleotide position 6541, causing the aspartic acid (D) at amino acid position 2181 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity Omics RCV003145429 SCV003833291 uncertain significance not provided 2019-06-25 criteria provided, single submitter clinical testing

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