ClinVar Miner

Submissions for variant NM_022114.4(PRDM16):c.2702T>C (p.Ile901Thr)

gnomAD frequency: 0.00001  dbSNP: rs1482371535
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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 RCV001369927 SCV001566385 uncertain significance Left ventricular noncompaction 8 2020-05-05 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with PRDM16-related conditions. This sequence change replaces isoleucine with threonine at codon 901 of the PRDM16 protein (p.Ile901Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine.
Fulgent Genetics, Fulgent Genetics RCV001369927 SCV002778043 uncertain significance Left ventricular noncompaction 8 2021-10-11 criteria provided, single submitter clinical testing

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