ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.559G>A (p.Asp187Asn)

gnomAD frequency: 0.00003  dbSNP: rs773589345
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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 RCV001345713 SCV001539852 uncertain significance Amelocerebrohypohidrotic syndrome 2023-05-26 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1041846). This variant has not been reported in the literature in individuals affected with ROGDI-related conditions. This variant is present in population databases (rs773589345, gnomAD 0.005%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 187 of the ROGDI protein (p.Asp187Asn).
Ambry Genetics RCV004036465 SCV005013634 uncertain significance Inborn genetic diseases 2023-12-30 criteria provided, single submitter clinical testing The c.559G>A (p.D187N) alteration is located in exon 8 (coding exon 8) of the ROGDI gene. This alteration results from a G to A substitution at nucleotide position 559, causing the aspartic acid (D) at amino acid position 187 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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