ClinVar Miner

Submissions for variant NM_003172.4(SURF1):c.809_826dup (p.Glu270_Ile275dup) (rs782161777)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000689337 SCV000816983 uncertain significance Leigh syndrome 2018-04-28 criteria provided, single submitter clinical testing This variant, c.809_826dup, results in the insertion of 6 amino acids to the SURF1 protein (p.Glu270_Ile275dup), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in an individual affected with Leigh syndrome (PMID: 28429146). This variant is also known as c.826_827ins18 in the literature. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acids is currently unknown. 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.
Laboratory of Metabolic Disorders,Peking University First Hospital RCV000689337 SCV000732899 pathogenic Leigh syndrome 2018-04-05 no assertion criteria provided research

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