ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.577_578delinsAG (p.Tyr193Ser)

dbSNP: rs2141906440
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001938853 SCV002206258 uncertain significance Amelocerebrohypohidrotic syndrome 2022-10-17 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ROGDI-related conditions. This sequence change replaces tyrosine with serine at codon 193 of the ROGDI protein (p.Tyr193Ser). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and serine. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. ClinVar contains an entry for this variant (Variation ID: 1429283). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). 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.

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