ClinVar Miner

Submissions for variant NM_000026.4(ADSL):c.403-4G>A

gnomAD frequency: 0.00064  dbSNP: rs373652667
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227251 SCV000282686 benign Adenylosuccinate lyase deficiency 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV000428118 SCV000511988 benign not specified 2015-07-06 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.
Baylor Genetics RCV000227251 SCV000807598 uncertain significance Adenylosuccinate lyase deficiency 2017-09-01 criteria provided, single submitter clinical testing This mutation has been seen once in our laboratory in trans with a nonsense mutation in a 2-year-old male with failure to thrive, short stature, problems with vomiting and hypoglycemia, postprandial hyperglycemia, and normal developmental milestones. Heterozygotes are expected to be asymptomatic carriers.
Athena Diagnostics RCV000710484 SCV000840715 likely benign not provided 2018-03-08 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000227251 SCV001308431 uncertain significance Adenylosuccinate lyase deficiency 2018-01-12 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.

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