ClinVar Miner

Submissions for variant NM_030962.4(SBF2):c.4523G>A (p.Arg1508His)

gnomAD frequency: 0.00004  dbSNP: rs770619905
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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 RCV000654172 SCV000776062 uncertain significance Charcot-Marie-Tooth disease type 4 2022-03-24 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1508 of the SBF2 protein (p.Arg1508His). This variant is present in population databases (rs770619905, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SBF2-related conditions. ClinVar contains an entry for this variant (Variation ID: 543414). 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: "Tolerated"; PolyPhen-2: "Probably 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.
Athena Diagnostics RCV001288386 SCV001475457 uncertain significance not provided 2020-08-14 criteria provided, single submitter clinical testing
GeneDx RCV001288386 SCV002559312 uncertain significance not provided 2022-01-25 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV005268701 SCV005935863 uncertain significance Inborn genetic diseases 2025-01-19 criteria provided, single submitter clinical testing The c.4523G>A (p.R1508H) alteration is located in exon 33 (coding exon 33) of the SBF2 gene. This alteration results from a G to A substitution at nucleotide position 4523, causing the arginine (R) at amino acid position 1508 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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