ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.508G>A (p.Glu170Lys)

gnomAD frequency: 0.00001  dbSNP: rs575700252
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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 RCV000819017 SCV000959658 uncertain significance Amelocerebrohypohidrotic syndrome 2022-08-16 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 661571). This variant has not been reported in the literature in individuals affected with ROGDI-related conditions. 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 sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 170 of the ROGDI protein (p.Glu170Lys).
Ambry Genetics RCV004028998 SCV005013632 uncertain significance Inborn genetic diseases 2024-01-16 criteria provided, single submitter clinical testing The c.508G>A (p.E170K) alteration is located in exon 7 (coding exon 7) of the ROGDI gene. This alteration results from a G to A substitution at nucleotide position 508, causing the glutamic acid (E) at amino acid position 170 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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