ClinVar Miner

Submissions for variant NM_007286.6(SYNPO):c.2372CCCCGC[3] (p.Pro797_Pro800del)

dbSNP: rs769259449
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001687784 SCV001910219 benign not provided 2021-05-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001687784 SCV002308416 uncertain significance not provided 2024-01-25 criteria provided, single submitter clinical testing This variant, c.2390_2401del, results in the deletion of 4 amino acid(s) of the SYNPO protein (p.Pro797_Pro800del), 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 gnomAD database. This variant has not been reported in the literature in individuals affected with SYNPO-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant 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.

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