ClinVar Miner

Submissions for variant NM_005726.6(TSFM):c.161G>A (p.Arg54Gln)

gnomAD frequency: 0.00003  dbSNP: rs202213736
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000994943 SCV001148774 uncertain significance not provided 2019-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000994943 SCV003004071 uncertain significance not provided 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 54 of the TSFM protein (p.Arg54Gln). This variant is present in population databases (rs202213736, gnomAD 0.07%). This missense change has been observed in individual(s) with TSFM-related conditions (PMID: 33816677). ClinVar contains an entry for this variant (Variation ID: 806907). 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. 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.
Baylor Genetics RCV003333117 SCV004040668 uncertain significance Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 2023-02-17 criteria provided, single submitter clinical testing

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