ClinVar Miner

Submissions for variant NM_020745.4(AARS2):c.1157C>T (p.Ala386Val)

gnomAD frequency: 0.00019  dbSNP: rs143271585
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332349 SCV001524645 uncertain significance Combined oxidative phosphorylation defect type 8 2019-09-18 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002546552 SCV003681153 uncertain significance Inborn genetic diseases 2022-06-24 criteria provided, single submitter clinical testing The c.1157C>T (p.A386V) alteration is located in exon 8 (coding exon 8) of the AARS2 gene. This alteration results from a C to T substitution at nucleotide position 1157, causing the alanine (A) at amino acid position 386 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV003127809 SCV003803176 uncertain significance not provided 2024-11-22 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Baylor Genetics RCV003147618 SCV003836177 uncertain significance Leukoencephalopathy, progressive, with ovarian failure 2022-01-27 criteria provided, single submitter clinical testing

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