ClinVar Miner

Submissions for variant NM_015374.3(SUN2):c.452C>G (p.Ser151Cys)

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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 RCV003540065 SCV004284627 uncertain significance Emery-Dreifuss muscular dystrophy 2023-05-16 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. 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 disruptive. This variant has not been reported in the literature in individuals affected with SUN2-related conditions. This variant is present in population databases (rs149626068, gnomAD 0.005%). This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 151 of the SUN2 protein (p.Ser151Cys).
Ambry Genetics RCV004867883 SCV005511368 uncertain significance not specified 2024-08-07 criteria provided, single submitter clinical testing The c.452C>G (p.S151C) alteration is located in exon 5 (coding exon 4) of the SUN2 gene. This alteration results from a C to G substitution at nucleotide position 452, causing the serine (S) at amino acid position 151 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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