ClinVar Miner

Submissions for variant NM_005876.5(SPEG):c.1612C>T (p.Arg538Trp)

gnomAD frequency: 0.00001  dbSNP: rs1381276826
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001969368 SCV002260747 uncertain significance not provided 2023-12-07 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 538 of the SPEG protein (p.Arg538Trp). This variant is present in population databases (no rsID available, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with SPEG-related conditions. ClinVar contains an entry for this variant (Variation ID: 1472771). 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 tolerated. 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.
Revvity Omics, Revvity RCV003136392 SCV003820007 uncertain significance Myopathy, centronuclear, 5 2022-02-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV003170277 SCV003900115 uncertain significance Inborn genetic diseases 2023-02-28 criteria provided, single submitter clinical testing The c.1612C>T (p.R538W) alteration is located in exon 4 (coding exon 4) of the SPEG gene. This alteration results from a C to T substitution at nucleotide position 1612, causing the arginine (R) at amino acid position 538 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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