ClinVar Miner

Submissions for variant NM_000026.4(ADSL):c.357+6C>T

gnomAD frequency: 0.00015  dbSNP: rs181628906
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000123547 SCV000166886 benign not specified 2013-03-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Laboratory Services, Illumina RCV000289803 SCV000438675 uncertain significance Adenylosuccinate lyase deficiency 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV000289803 SCV000547389 likely benign Adenylosuccinate lyase deficiency 2024-01-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710482 SCV000840713 uncertain significance not provided 2022-03-29 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000289803 SCV000898518 uncertain significance Adenylosuccinate lyase deficiency 2021-03-30 criteria provided, single submitter clinical testing ADSL NM_000026 exon 2 c.357+6C>T: This variant has not been reported in the literature but is present in 0.3% (39/10152) of Ashkenazi Jewish alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs181628906). This variant is present in ClinVar (Variation ID:136308). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is an intronic variant with no predicted change in the amino acid sequence but may have an unknown effect on splicing. Further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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