ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.1300C>G (p.Pro434Ala)

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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 RCV003088607 SCV003485669 uncertain significance Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2023-01-15 criteria provided, single submitter clinical testing This variant is present in population databases (rs749677748, gnomAD 0.004%). This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 434 of the ADAR protein (p.Pro434Ala). This variant has not been reported in the literature in individuals affected with ADAR-related conditions. 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 ADAR protein function.
Ambry Genetics RCV004073273 SCV004854571 uncertain significance Inborn genetic diseases 2024-02-13 criteria provided, single submitter clinical testing The c.1300C>G (p.P434A) alteration is located in exon 2 (coding exon 2) of the ADAR gene. This alteration results from a C to G substitution at nucleotide position 1300, causing the proline (P) at amino acid position 434 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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