ClinVar Miner

Submissions for variant NM_015374.3(SUN2):c.2017C>A (p.Pro673Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004161971 SCV003643705 uncertain significance not specified 2022-08-29 criteria provided, single submitter clinical testing The c.2017C>A (p.P673T) alteration is located in exon 17 (coding exon 16) of the SUN2 gene. This alteration results from a C to A substitution at nucleotide position 2017, causing the proline (P) at amino acid position 673 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003111704 SCV003790458 uncertain significance Emery-Dreifuss muscular dystrophy 2024-12-21 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 673 of the SUN2 protein (p.Pro673Thr). This variant is present in population databases (rs367828475, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with SUN2-related conditions. ClinVar contains an entry for this variant (Variation ID: 2309263). 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. 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.

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