ClinVar Miner

Submissions for variant NM_020745.4(AARS2):c.2210C>G (p.Ala737Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002774468 SCV003758392 uncertain significance Inborn genetic diseases 2022-03-29 criteria provided, single submitter clinical testing The c.2210C>G (p.A737G) alteration is located in exon 16 (coding exon 16) of the AARS2 gene. This alteration results from a C to G substitution at nucleotide position 2210, causing the alanine (A) at amino acid position 737 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV004593207 SCV005078317 uncertain significance not provided 2023-12-14 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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