ClinVar Miner

Submissions for variant NM_001673.5(ASNS):c.728T>C (p.Val243Ala)

gnomAD frequency: 0.00002  dbSNP: rs148111963
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000440696 SCV000511055 likely pathogenic not provided 2016-10-14 criteria provided, single submitter clinical testing
Invitae RCV000440696 SCV003458187 uncertain significance not provided 2022-08-10 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 243 of the ASNS protein (p.Val243Ala). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with asparagine synthetase deficiency (PMID: 29375865). ClinVar contains an entry for this variant (Variation ID: 377002). 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) performed at Invitae indicates that this missense variant is expected to disrupt ASNS 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.
OMIM RCV000787475 SCV000926440 pathogenic Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 2019-07-17 no assertion criteria provided literature only

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