ClinVar Miner

Submissions for variant NM_001080449.3(DNA2):c.662C>G (p.Ala221Gly)

dbSNP: rs751031650
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001532604 SCV001748233 likely pathogenic not provided 2022-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001532604 SCV003786505 uncertain significance not provided 2023-08-03 criteria provided, single submitter clinical testing 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 DNA2 protein function. ClinVar contains an entry for this variant (Variation ID: 1176875). This missense change has been observed in individual(s) with autosomal dominant DNA2-related conditions (PMID: 31478350). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 221 of the DNA2 protein (p.Ala221Gly).
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas RCV003388022 SCV004099459 likely pathogenic Mitochondrial DNA deletion syndrome with progressive myopathy 2023-10-30 no assertion criteria provided clinical testing

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