ClinVar Miner

Submissions for variant NM_001130965.3(SUN1):c.233G>A (p.Ser78Asn)

gnomAD frequency: 0.00012  dbSNP: rs780522800
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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 RCV001360222 SCV001556127 uncertain significance Emery-Dreifuss muscular dystrophy 2022-06-20 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 78 of the SUN1 protein (p.Ser78Asn). This variant is present in population databases (rs780522800, gnomAD 0.08%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with SUN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1052100). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV004036756 SCV003732677 uncertain significance not specified 2021-09-16 criteria provided, single submitter clinical testing The c.233G>A (p.S78N) alteration is located in exon 2 (coding exon 2) of the SUN1 gene. This alteration results from a G to A substitution at nucleotide position 233, causing the serine (S) at amino acid position 78 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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