ClinVar Miner

Submissions for variant NM_020117.11(LARS1):c.1545G>A (p.Met515Ile)

gnomAD frequency: 0.00003  dbSNP: rs863224045
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198256 SCV000251624 likely benign not specified 2014-06-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000198256 SCV005607892 uncertain significance not specified 2024-11-13 criteria provided, single submitter clinical testing The c.1545G>A (p.M515I) alteration is located in exon 16 (coding exon 16) of the LARS gene. This alteration results from a G to A substitution at nucleotide position 1545, causing the methionine (M) at amino acid position 515 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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