ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.507G>C (p.Trp169Cys)

gnomAD frequency: 0.00001  dbSNP: rs759952363
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674567 SCV000799925 uncertain significance Argininosuccinate lyase deficiency 2018-05-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000674567 SCV001564134 uncertain significance Argininosuccinate lyase deficiency 2021-09-17 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with cysteine at codon 169 of the ASL protein (p.Trp169Cys). The tryptophan residue is highly conserved and there is a large physicochemical difference between tryptophan and cysteine. This variant is present in population databases (rs759952363, ExAC 0.005%). This variant has been observed in individual(s) with ASL-related conditions (PMID: 31943503). ClinVar contains an entry for this variant (Variation ID: 203612). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ASL protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV000674567 SCV002814439 uncertain significance Argininosuccinate lyase deficiency 2021-08-06 criteria provided, single submitter clinical testing
Baylor Genetics RCV000674567 SCV004201095 likely pathogenic Argininosuccinate lyase deficiency 2023-07-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV000674567 SCV002076008 uncertain significance Argininosuccinate lyase deficiency 2019-10-28 no assertion criteria provided clinical testing

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