ClinVar Miner

Submissions for variant NM_022114.4(PRDM16):c.76C>T (p.Arg26Trp)

gnomAD frequency: 0.00006  dbSNP: rs769704263
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000549245 SCV000654405 uncertain significance Left ventricular noncompaction 8 2023-11-24 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 26 of the PRDM16 protein (p.Arg26Trp). This variant is present in population databases (rs769704263, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with PRDM16-related conditions. ClinVar contains an entry for this variant (Variation ID: 474439). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Genetics and Genomics Program, Sidra Medicine RCV001293113 SCV001434103 uncertain significance Primary dilated cardiomyopathy criteria provided, single submitter research
GeneDx RCV002274065 SCV002559630 uncertain significance not provided 2022-02-08 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Ambry Genetics RCV003243194 SCV003983162 uncertain significance Inborn genetic diseases 2023-05-03 criteria provided, single submitter clinical testing The c.76C>T (p.R26W) alteration is located in exon 2 (coding exon 2) of the PRDM16 gene. This alteration results from a C to T substitution at nucleotide position 76, causing the arginine (R) at amino acid position 26 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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