ClinVar Miner

Submissions for variant NM_000026.4(ADSL):c.1337CTT[2] (p.Ser448del)

dbSNP: rs796052252
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186709 SCV000240275 likely pathogenic not provided 2024-04-26 criteria provided, single submitter clinical testing In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 33648541)
Labcorp Genetics (formerly Invitae), Labcorp RCV001036968 SCV001200359 pathogenic Adenylosuccinate lyase deficiency 2024-10-23 criteria provided, single submitter clinical testing This variant, c.1343_1345del, results in the deletion of 1 amino acid(s) of the ADSL protein (p.Ser448del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs766428638, gnomAD 0.02%). This variant has been observed in individual(s) with adenylosuccinate lyase deficiency (PMID: 33648541). ClinVar contains an entry for this variant (Variation ID: 204813). This variant disrupts a region of the ADSL protein in which other variant(s) (p.Ser448Pro) have been determined to be pathogenic (PMID: 16839792, 24781210; internal data). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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