ClinVar Miner

Submissions for variant NM_000026.4(ADSL):c.568C>T (p.Arg190Ter) (rs750614500)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186710 SCV000240276 pathogenic not provided 2015-01-10 criteria provided, single submitter clinical testing p.Arg190Ter (CGA>TGA): c.568 C>T in exon 5 of the ADSL gene (NM_000026.2) The R190X nonsense mutation has been reported previously in a patient with adenylosuccinate lyase (ADSL) deficiency who also harbored a second disease-causing mutation in the ADSL gene (Marinaki et al., 2004). This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is found in INFANT-EPI panel(s).
Athena Diagnostics Inc RCV000186710 SCV000840717 pathogenic not provided 2018-04-30 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763484 SCV000894268 pathogenic Adenylosuccinate lyase deficiency 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000763484 SCV001205329 pathogenic Adenylosuccinate lyase deficiency 2019-11-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg190*) in the ADSL gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs750614500, ExAC 0.001%). This variant has been observed in combination with another ADSL variant in individual(s) with adenylosuccinate lyase deficiency (PMID: 15571235). ClinVar contains an entry for this variant (Variation ID: 204814). Loss-of-function variants in ADSL are known to be pathogenic (PMID: 10888601, 20177786). For these reasons, this variant has been classified as Pathogenic.

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