ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.1559G>C (p.Gly520Ala)

gnomAD frequency: 0.00001  dbSNP: rs770496206
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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 RCV001998191 SCV002260436 uncertain significance Bethlem myopathy 1A 2023-05-11 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 520 of the COL6A3 protein (p.Gly520Ala). This variant is present in population databases (rs770496206, gnomAD 0.003%). 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. 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 not expected to disrupt COL6A3 protein function. ClinVar contains an entry for this variant (Variation ID: 1476699). This variant has not been reported in the literature in individuals affected with COL6A3-related conditions.
Ambry Genetics RCV002573453 SCV003709253 uncertain significance Inborn genetic diseases 2021-12-07 criteria provided, single submitter clinical testing The c.1559G>C (p.G520A) alteration is located in exon 5 (coding exon 4) of the COL6A3 gene. This alteration results from a G to C substitution at nucleotide position 1559, causing the glycine (G) at amino acid position 520 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003434377 SCV004147350 uncertain significance not provided 2022-11-01 criteria provided, single submitter clinical testing COL6A3: PM2, BP4

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