ClinVar Miner

Submissions for variant NM_000996.4(RPL35A):c.59A>G (p.Asn20Ser)

gnomAD frequency: 0.00001  dbSNP: rs1283030430
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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 RCV001883653 SCV002145713 uncertain significance Diamond-Blackfan anemia 5 2023-08-30 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 1379208). This variant has not been reported in the literature in individuals affected with RPL35A-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 20 of the RPL35A protein (p.Asn20Ser).

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