ClinVar Miner

Submissions for variant NM_000026.4(ADSL):c.895A>G (p.Met299Val) (rs34396910)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000710485 SCV000232895 uncertain significance not provided 2018-07-05 criteria provided, single submitter clinical testing
GeneDx RCV000710485 SCV000240248 uncertain significance not provided 2018-10-02 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ADSL gene. The M299V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The M299V variant is observed in 81/24,036 (0.3%) alleles from individuals of African background in large population cohorts (Lek et al., 2016). The M299V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, in-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV001087090 SCV000558605 likely benign Adenylosuccinate lyase deficiency 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710485 SCV000840718 uncertain significance not provided 2017-09-25 criteria provided, single submitter clinical testing

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