ClinVar Miner

Submissions for variant NM_020745.4(AARS2):c.2471T>C (p.Ile824Thr)

gnomAD frequency: 0.00016  dbSNP: rs146765163
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001571192 SCV001795615 uncertain significance not provided 2020-11-02 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001571192 SCV003291484 likely benign not provided 2023-07-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV004039369 SCV004918409 uncertain significance Inborn genetic diseases 2021-09-16 criteria provided, single submitter clinical testing The c.2471T>C (p.I824T) alteration is located in exon 18 (coding exon 18) of the AARS2 gene. This alteration results from a T to C substitution at nucleotide position 2471, causing the isoleucine (I) at amino acid position 824 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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