ClinVar Miner

Submissions for variant NM_000026.4(ADSL):c.319C>T (p.His107Tyr)

dbSNP: rs2146623366
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001373726 SCV001570458 uncertain significance Adenylosuccinate lyase deficiency 2020-05-04 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with ADSL-related conditions. This variant is not present in population databases (ExAC no frequency). 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. This sequence change replaces histidine with tyrosine at codon 107 of the ADSL protein (p.His107Tyr). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and tyrosine.

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