ClinVar Miner

Submissions for variant NM_020117.11(LARS1):c.2915T>C (p.Ile972Thr)

gnomAD frequency: 0.00004  dbSNP: rs377245038
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197511 SCV000251632 likely benign not specified 2014-07-14 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 RCV000197511 SCV004894345 uncertain significance not specified 2024-09-27 criteria provided, single submitter clinical testing The c.2915T>C (p.I972T) alteration is located in exon 28 (coding exon 28) of the LARS gene. This alteration results from a T to C substitution at nucleotide position 2915, causing the isoleucine (I) at amino acid position 972 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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