ClinVar Miner

Submissions for variant NM_000159.4(GCDH):c.829C>T (p.Leu277Phe)

gnomAD frequency: 0.00007  dbSNP: rs371654188
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000545566 SCV000631940 uncertain significance Glutaric aciduria, type 1 2022-07-05 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 277 of the GCDH protein (p.Leu277Phe). This variant is present in population databases (rs371654188, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with GCDH-related conditions. ClinVar contains an entry for this variant (Variation ID: 459953). 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 GCDH 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.
Natera, Inc. RCV000545566 SCV002086978 uncertain significance Glutaric aciduria, type 1 2019-10-28 no assertion criteria provided clinical testing

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