ClinVar Miner

Submissions for variant NM_001012339.3(DNAJC21):c.410T>C (p.Phe137Ser)

gnomAD frequency: 0.00001  dbSNP: rs752188838
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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 RCV001964646 SCV002203949 uncertain significance not provided 2021-06-06 criteria provided, single submitter clinical testing 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with DNAJC21-related conditions. This variant is present in population databases (rs752188838, ExAC 0.01%). This sequence change replaces phenylalanine with serine at codon 137 of the DNAJC21 protein (p.Phe137Ser). The phenylalanine residue is highly conserved and there is a large physicochemical difference between phenylalanine and serine. 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.
3billion RCV002283569 SCV002573334 uncertain significance Bone marrow failure syndrome 3 2022-09-01 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.002%). Missense. In silico tool predictions suggest damaging effect of the variant on gene or gene product. However, the evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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