ClinVar Miner

Submissions for variant NM_000026.4(ADSL):c.439A>G (p.Lys147Glu)

gnomAD frequency: 0.00001  dbSNP: rs746180694
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330906 SCV001522759 uncertain significance Adenylosuccinate lyase deficiency 2020-01-16 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001330906 SCV002326289 likely benign Adenylosuccinate lyase deficiency 2025-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV004035707 SCV004866931 uncertain significance Inborn genetic diseases 2023-12-27 criteria provided, single submitter clinical testing The c.439A>G (p.K147E) alteration is located in exon 4 (coding exon 4) of the ADSL gene. This alteration results from a A to G substitution at nucleotide position 439, causing the lysine (K) at amino acid position 147 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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