ClinVar Miner

Submissions for variant NM_003680.4(YARS1):c.181G>A (p.Asp61Asn)

gnomAD frequency: 0.00001  dbSNP: rs776582429
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000696929 SCV000825512 uncertain significance Charcot-Marie-Tooth disease dominant intermediate C 2021-12-10 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with YARS-related conditions. This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 61 of the YARS protein (p.Asp61Asn). This variant is present in population databases (no rsID available, gnomAD 0.0009%). ClinVar contains an entry for this variant (Variation ID: 574877). 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: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). 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.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001813549 SCV002060437 uncertain significance Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 2022-01-18 criteria provided, single submitter clinical testing

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