ClinVar Miner

Submissions for variant NM_001368882.1(COL13A1):c.567C>A (p.Asp189Glu)

dbSNP: rs202115626
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332872 SCV001525311 uncertain significance Congenital myasthenic syndrome 19 2019-03-26 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001865769 SCV002196558 uncertain significance not provided 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 180 of the COL13A1 protein (p.Asp180Glu). This variant is present in population databases (rs202115626, gnomAD 0.08%). This variant has not been reported in the literature in individuals affected with COL13A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1031125). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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 RCV002546603 SCV003740199 uncertain significance Inborn genetic diseases 2022-12-16 criteria provided, single submitter clinical testing The c.540C>A (p.D180E) alteration is located in exon 8 (coding exon 8) of the COL13A1 gene. This alteration results from a C to A substitution at nucleotide position 540, causing the aspartic acid (D) at amino acid position 180 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001332872 SCV003833409 uncertain significance Congenital myasthenic syndrome 19 2019-08-02 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001865769 SCV005411029 uncertain significance not provided 2023-09-27 criteria provided, single submitter clinical testing

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