ClinVar Miner

Submissions for variant NM_001605.2(AARS1):c.2192C>T (p.Ser731Leu) (rs150873930)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000347277 SCV000336748 uncertain significance not provided 2015-11-11 criteria provided, single submitter clinical testing
Invitae RCV000705005 SCV000833982 uncertain significance Charcot-Marie-Tooth disease, type 2 2018-12-18 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 731 of the AARS protein (p.Ser731Leu). The serine residue is moderately conserved and there is a large physicochemical difference between serine and leucine. This variant is present in population databases (rs150873930, ExAC 0.05%). This variant has not been reported in the literature in individuals with AARS-related disease. ClinVar contains an entry for this variant (Variation ID: 284220). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Molecular Genetics Laboratory,London Health Sciences Centre RCV000999713 SCV001156500 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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