ClinVar Miner

Submissions for variant NM_020745.4(AARS2):c.533C>T (p.Ala178Val)

gnomAD frequency: 0.00043  dbSNP: rs200343365
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334095 SCV001526839 uncertain significance Combined oxidative phosphorylation defect type 8 2018-09-14 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 RCV002054316 SCV002351023 likely benign not provided 2022-06-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV004601124 SCV005099513 uncertain significance Inborn genetic diseases 2024-06-11 criteria provided, single submitter clinical testing The c.533C>T (p.A178V) alteration is located in exon 3 (coding exon 3) of the AARS2 gene. This alteration results from a C to T substitution at nucleotide position 533, causing the alanine (A) at amino acid position 178 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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