ClinVar Miner

Submissions for variant NM_018699.4(PRDM5):c.236C>G (p.Ser79Cys)

gnomAD frequency: 0.00022  dbSNP: rs201325904
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000398886 SCV000447359 uncertain significance Brittle cornea syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002450921 SCV002735851 likely benign Cardiovascular phenotype 2022-07-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV002520200 SCV003295335 uncertain significance not provided 2022-05-09 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 79 of the PRDM5 protein (p.Ser79Cys). This variant is present in population databases (rs201325904, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with PRDM5-related conditions. ClinVar contains an entry for this variant (Variation ID: 347453). 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). 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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