ClinVar Miner

Submissions for variant NM_005548.3(KARS1):c.690A>T (p.Arg230Ser)

gnomAD frequency: 0.00002  dbSNP: rs1370913867
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV000660587 SCV000782699 likely pathogenic not provided 2024-08-06 criteria provided, single submitter clinical testing PP3, PM2, PM3, PS4_moderate
GeneDx RCV000660587 SCV001772512 likely pathogenic not provided 2023-08-30 criteria provided, single submitter clinical testing Observed in unrelated patients with KARS1-related aminoacyl-tRNA synthetase deficiency in published literature (Schon et al., 2021; Macken et al., 2022); however it is unclear whether the variants are on the same allele (in cis) or on opposite alleles (in trans); Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34172899, 36344503, 34732400)
Medical Genetics, Spectrum Health RCV003322806 SCV004028475 likely pathogenic Leukoencephalopathy, progressive, infantile-onset, with or without deafness 2023-08-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004026058 SCV004888891 uncertain significance not specified 2022-05-11 criteria provided, single submitter clinical testing The c.774A>T (p.R258S) alteration is located in exon 7 (coding exon 6) of the KARS gene. This alteration results from a A to T substitution at nucleotide position 774, causing the arginine (R) at amino acid position 258 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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