ClinVar Miner

Submissions for variant NM_145261.4(DNAJC19):c.217G>A (p.Ala73Thr)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002907977 SCV003247285 uncertain significance 3-methylglutaconic aciduria type 5 2022-10-25 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 73 of the DNAJC19 protein (p.Ala73Thr). This variant is present in population databases (rs757569013, gnomAD 0.02%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV002886041 SCV003741556 uncertain significance Inborn genetic diseases 2022-05-25 criteria provided, single submitter clinical testing The c.217G>A (p.A73T) alteration is located in exon 5 (coding exon 5) of the DNAJC19 gene. This alteration results from a G to A substitution at nucleotide position 217, causing the alanine (A) at amino acid position 73 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003155495 SCV003844368 uncertain significance not specified 2023-02-05 criteria provided, single submitter clinical testing

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