ClinVar Miner

Submissions for variant NM_000159.4(GCDH):c.428T>C (p.Val143Ala)

gnomAD frequency: 0.00004  dbSNP: rs141456457
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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) RCV000078252 SCV000110090 uncertain significance not provided 2017-12-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000546348 SCV000631937 pathogenic Glutaric aciduria, type 1 2023-11-19 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 143 of the GCDH protein (p.Val143Ala). This variant is present in population databases (rs141456457, gnomAD 0.005%). This missense change has been observed in individual(s) with glutaric acidemia I (GA1) (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 92531). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on GCDH protein function. For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000546348 SCV000792548 uncertain significance Glutaric aciduria, type 1 2017-06-30 criteria provided, single submitter clinical testing

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