ClinVar Miner

Submissions for variant NM_018122.5(DARS2):c.610C>G (p.Leu204Val)

gnomAD frequency: 0.00001  dbSNP: rs1020907363
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986464 SCV001135472 uncertain significance Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001858642 SCV002183553 uncertain significance not provided 2023-10-03 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 204 of the DARS2 protein (p.Leu204Val). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with clinical features of DARS2-related leukoencephalopathy (Invitae). ClinVar contains an entry for this variant (Variation ID: 801579). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on DARS2 protein function. 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.
Ambry Genetics RCV002549667 SCV003617731 uncertain significance Inborn genetic diseases 2022-05-01 criteria provided, single submitter clinical testing The c.610C>G (p.L204V) alteration is located in exon 6 (coding exon 6) of the DARS2 gene. This alteration results from a C to G substitution at nucleotide position 610, causing the leucine (L) at amino acid position 204 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV000986464 SCV004048886 uncertain significance Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 2023-04-11 criteria provided, single submitter clinical testing

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