ClinVar Miner

Submissions for variant NM_001130965.3(SUN1):c.1330A>G (p.Lys444Glu)

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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 RCV004668360 SCV005166221 uncertain significance not specified 2024-06-07 criteria provided, single submitter clinical testing The c.1330A>G (p.K444E) alteration is located in exon 11 (coding exon 11) of the SUN1 gene. This alteration results from a A to G substitution at nucleotide position 1330, causing the lysine (K) at amino acid position 444 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005103473 SCV005770180 uncertain significance Emery-Dreifuss muscular dystrophy 2024-03-19 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 444 of the SUN1 protein (p.Lys444Glu). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with SUN1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The glutamic acid 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.

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