ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.3175A>G (p.Asn1059Asp)

dbSNP: rs2152059350
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002027261 SCV002315049 uncertain significance Progressive sclerosing poliodystrophy 2023-03-27 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 expected to disrupt POLG protein function. ClinVar contains an entry for this variant (Variation ID: 1517311). This variant has not been reported in the literature in individuals affected with POLG-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 1059 of the POLG protein (p.Asn1059Asp).
Ambry Genetics RCV003161262 SCV003884540 uncertain significance Inborn genetic diseases 2023-01-10 criteria provided, single submitter clinical testing The c.3175A>G (p.N1059D) alteration is located in exon 20 (coding exon 19) of the POLG gene. This alteration results from a A to G substitution at nucleotide position 3175, causing the asparagine (N) at amino acid position 1059 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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