ClinVar Miner

Submissions for variant NM_001130965.3(SUN1):c.898T>G (p.Phe300Val)

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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 RCV002895760 SCV003249548 uncertain significance Emery-Dreifuss muscular dystrophy 2023-06-10 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 sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 2043216). This variant has not been reported in the literature in individuals affected with SUN1-related conditions. This variant is present in population databases (rs371348168, gnomAD 0.01%). This sequence change replaces phenylalanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 300 of the SUN1 protein (p.Phe300Val).
Ambry Genetics RCV004681561 SCV005166217 uncertain significance not specified 2024-05-15 criteria provided, single submitter clinical testing The c.898T>G (p.F300V) alteration is located in exon 8 (coding exon 8) of the SUN1 gene. This alteration results from a T to G substitution at nucleotide position 898, causing the phenylalanine (F) at amino acid position 300 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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