ClinVar Miner

Submissions for variant NM_015340.4(LARS2):c.899C>T (p.Thr300Met)

gnomAD frequency: 0.00001  dbSNP: rs864309642
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics and RNA Biology, Humanitas University RCV000203257 SCV000238519 pathogenic Perrault syndrome 4 2015-05-18 criteria provided, single submitter research
Invitae RCV003556221 SCV004292687 uncertain significance not provided 2022-12-01 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt LARS2 protein function. ClinVar contains an entry for this variant (Variation ID: 203990). This missense change has been observed in individual(s) with Perrault syndrome (PMID: 26657938). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 300 of the LARS2 protein (p.Thr300Met).
OMIM RCV000203257 SCV000292566 pathogenic Perrault syndrome 4 2015-12-10 no assertion criteria provided literature only

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