ClinVar Miner

Submissions for variant NM_000026.4(ADSL):c.16G>C (p.Asp6His)

gnomAD frequency: 0.00016  dbSNP: rs140064577
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000327088 SCV000332723 uncertain significance not provided 2015-07-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000551429 SCV000631365 uncertain significance Adenylosuccinate lyase deficiency 2022-08-31 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 6 of the ADSL protein (p.Asp6His). This variant is present in population databases (rs140064577, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with ADSL-related conditions. ClinVar contains an entry for this variant (Variation ID: 281756). 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 not expected to disrupt ADSL 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.
Ambry Genetics RCV002518830 SCV003540211 uncertain significance Inborn genetic diseases 2022-01-31 criteria provided, single submitter clinical testing The c.16G>C (p.D6H) alteration is located in exon 1 (coding exon 1) of the ADSL gene. This alteration results from a G to C substitution at nucleotide position 16, causing the aspartic acid (D) at amino acid position 6 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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