ClinVar Miner

Submissions for variant NM_000969.5(RPL5):c.235T>A (p.Tyr79Asn)

gnomAD frequency: 0.00001  dbSNP: rs1043234543
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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 RCV001231388 SCV001403908 uncertain significance Diamond-Blackfan anemia 2023-06-14 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 958258). This variant has not been reported in the literature in individuals affected with RPL5-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 79 of the RPL5 protein (p.Tyr79Asn). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on RPL5 protein function.
Fulgent Genetics, Fulgent Genetics RCV002497788 SCV002813376 uncertain significance Diamond-Blackfan anemia 6 2021-10-20 criteria provided, single submitter clinical testing

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