ClinVar Miner

Submissions for variant NM_015374.3(SUN2):c.1840C>T (p.Arg614Cys)

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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 RCV002899147 SCV003243669 uncertain significance Emery-Dreifuss muscular dystrophy 2022-06-30 criteria provided, single submitter clinical testing 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals affected with SUN2-related conditions. This variant is present in population databases (rs182710324, gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 614 of the SUN2 protein (p.Arg614Cys).
Ambry Genetics RCV004867814 SCV005511369 uncertain significance not specified 2024-12-04 criteria provided, single submitter clinical testing The c.1840C>T (p.R614C) alteration is located in exon 16 (coding exon 15) of the SUN2 gene. This alteration results from a C to T substitution at nucleotide position 1840, causing the arginine (R) at amino acid position 614 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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