ClinVar Miner

Submissions for variant NM_005051.3(QARS1):c.316G>A (p.Asp106Asn)

gnomAD frequency: 0.00034  dbSNP: rs141983717
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000461879 SCV000549164 uncertain significance Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 106 of the QARS protein (p.Asp106Asn). This variant is present in population databases (rs141983717, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with QARS-related conditions. ClinVar contains an entry for this variant (Variation ID: 409237). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
GeneDx RCV000498066 SCV000589744 uncertain significance not provided 2024-07-31 criteria provided, single submitter clinical testing Observed in heterozygous state in an individual with neuronal seroid lipofuscinosis, epilepsy, and vermis hypoplasia, who also harbored a heterozygous variant in CNTNAP2 (PMID: 33528079); In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 25888430, 34406647, 25471517, 33528079, Hussein2023[Preprint])
Institute of Human Genetics, University Hospital Muenster RCV004584386 SCV002506431 uncertain significance See cases 2021-12-20 criteria provided, single submitter clinical testing ACMG categories: PM2
Fulgent Genetics, Fulgent Genetics RCV000461879 SCV002783275 uncertain significance Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome 2021-09-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000498066 SCV005189551 uncertain significance not provided criteria provided, single submitter not provided

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