ClinVar Miner

Submissions for variant NM_006859.4(LIAS):c.643G>A (p.Asp215Asn)

dbSNP: rs1560669433
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000694316 SCV000822755 uncertain significance Lipoic acid synthetase deficiency 2022-12-06 criteria provided, single submitter clinical testing 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. 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 LIAS protein function. ClinVar contains an entry for this variant (Variation ID: 572831). This variant has not been reported in the literature in individuals affected with LIAS-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 215 of the LIAS protein (p.Asp215Asn).
Ambry Genetics RCV003163178 SCV003871788 uncertain significance Inborn genetic diseases 2023-02-28 criteria provided, single submitter clinical testing The c.643G>A (p.D215N) alteration is located in exon 7 (coding exon 7) of the LIAS gene. This alteration results from a G to A substitution at nucleotide position 643, causing the aspartic acid (D) at amino acid position 215 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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