ClinVar Miner

Submissions for variant NM_004990.4(MARS1):c.1662_1667del (p.Lys554_Asp555del) (rs1555168270)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520619 SCV000618747 likely pathogenic not provided 2017-07-06 criteria provided, single submitter clinical testing The c.1662_1667delAGACAA variant in the MARS gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The c.1662_1667delAGACAA variant results in an in-frame deletion of two amino acid residues, starting with codon Lysine 554, denoted p.Lys554_Asp555del. This deletions contains residues that are conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. The c.1662_1667delAGACAA variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.1662_1667delAGACAA as a likely pathogenic variant.
GenomeConnect, ClinGen RCV000709861 SCV000840194 not provided MARS-Related Disorder no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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