ClinVar Miner

Submissions for variant NM_001605.3(AARS1):c.270G>A (p.Lys90=)

dbSNP: rs1597446213
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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 RCV001437587 SCV001640444 likely benign Charcot-Marie-Tooth disease type 2 2018-04-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004586965 SCV005077467 likely benign not specified 2024-04-04 criteria provided, single submitter clinical testing Variant summary: AARS1 c.270G>A alters a non-conserved nucleotide resulting in a synonymous change. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 251492 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.270G>A in individuals affected with Developmental And Epileptic Encephalopathy, 29 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 699653). Based on the evidence outlined above, the variant was classified as likely benign.

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