ClinVar Miner

Submissions for variant NM_001698.3(AUH):c.1003C>T (p.Arg335Cys)

gnomAD frequency: 0.00001  dbSNP: rs772918339
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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 RCV001878635 SCV002122618 uncertain significance 3-methylglutaconic aciduria type 1 2021-04-02 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with AUH-related conditions. This variant is present in population databases (rs772918339, ExAC 0.002%). This sequence change replaces arginine with cysteine at codon 335 of the AUH protein (p.Arg335Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine.
Ambry Genetics RCV002548694 SCV003576600 uncertain significance Inborn genetic diseases 2021-09-27 criteria provided, single submitter clinical testing The c.1003C>T (p.R335C) alteration is located in exon 10 (coding exon 10) of the AUH gene. This alteration results from a C to T substitution at nucleotide position 1003, causing the arginine (R) at amino acid position 335 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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