ClinVar Miner

Submissions for variant NM_005876.5(SPEG):c.8110C>T (p.Arg2704Trp)

gnomAD frequency: 0.00015  dbSNP: rs370009561
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001953056 SCV002218111 uncertain significance not provided 2022-06-20 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 2704 of the SPEG protein (p.Arg2704Trp). This variant is present in population databases (rs370009561, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with SPEG-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: "Deleterious"; PolyPhen-2: "Possibly 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 RCV002563414 SCV003709437 uncertain significance Inborn genetic diseases 2021-06-22 criteria provided, single submitter clinical testing The c.8110C>T (p.R2704W) alteration is located in exon 34 (coding exon 34) of the SPEG gene. This alteration results from a C to T substitution at nucleotide position 8110, causing the arginine (R) at amino acid position 2704 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003492710 SCV004237645 uncertain significance Myopathy, centronuclear, 5 2023-11-01 criteria provided, single submitter clinical testing

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