ClinVar Miner

Submissions for variant NM_205861.3(DHDDS):c.848G>A (p.Arg283Gln)

dbSNP: rs761750566
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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 RCV001206509 SCV001377820 uncertain significance Retinitis pigmentosa 59 2024-10-08 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 284 of the DHDDS protein (p.Arg284Gln). This variant is present in population databases (rs761750566, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with DHDDS-related conditions. ClinVar contains an entry for this variant (Variation ID: 937489). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Natera, Inc. RCV001206509 SCV002085965 uncertain significance Retinitis pigmentosa 59 2020-07-16 no assertion criteria provided clinical testing

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