ClinVar Miner

Submissions for variant NM_145261.4(DNAJC19):c.73G>A (p.Ala25Thr)

dbSNP: rs2108509645
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002048178 SCV002305943 uncertain significance 3-methylglutaconic aciduria type 5 2022-01-26 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 25 of the DNAJC19 protein (p.Ala25Thr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DNAJC19-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine 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.
Ambry Genetics RCV002545519 SCV003592136 uncertain significance Inborn genetic diseases 2021-11-09 criteria provided, single submitter clinical testing The c.73G>A (p.A25T) alteration is located in exon 3 (coding exon 3) of the DNAJC19 gene. This alteration results from a G to A substitution at nucleotide position 73, causing the alanine (A) at amino acid position 25 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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