ClinVar Miner

Submissions for variant NM_001605.3(AARS1):c.1073G>T (p.Gly358Val)

gnomAD frequency: 0.00001  dbSNP: rs370368784
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002236918 SCV002510472 uncertain significance Charcot-Marie-Tooth disease type 2 2024-01-29 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 358 of the AARS protein (p.Gly358Val). This variant is present in population databases (rs370368784, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with AARS-related conditions. ClinVar contains an entry for this variant (Variation ID: 1682256). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
CeGaT Center for Human Genetics Tuebingen RCV002292692 SCV002585579 uncertain significance not provided 2024-02-01 criteria provided, single submitter clinical testing AARS1: PM2, PP3
Ambry Genetics RCV004045106 SCV004916631 uncertain significance Inborn genetic diseases 2023-12-13 criteria provided, single submitter clinical testing The c.1073G>T (p.G358V) alteration is located in exon 9 (coding exon 8) of the AARS gene. This alteration results from a G to T substitution at nucleotide position 1073, causing the glycine (G) at amino acid position 358 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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