ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.85G>A (p.Ala29Thr)

gnomAD frequency: 0.00001  dbSNP: rs376839753
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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 RCV001064760 SCV001229679 uncertain significance Amelocerebrohypohidrotic syndrome 2022-07-20 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 29 of the ROGDI protein (p.Ala29Thr). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with ROGDI-related conditions. ClinVar contains an entry for this variant (Variation ID: 858798). 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. 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 RCV002555833 SCV003743383 uncertain significance Inborn genetic diseases 2021-03-19 criteria provided, single submitter clinical testing The c.85G>A (p.A29T) alteration is located in exon 2 (coding exon 2) of the ROGDI gene. This alteration results from a G to A substitution at nucleotide position 85, causing the alanine (A) at amino acid position 29 to be replaced by a threonine (T). The p.A29T alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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