ClinVar Miner

Submissions for variant NM_006172.4(NPPA):c.346_354del (p.Arg116_Leu118del)

dbSNP: rs768517567
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001042132 SCV001205796 uncertain significance Atrial fibrillation, familial, 6 2019-06-11 criteria provided, single submitter clinical testing This variant, c.346_354del, results in the deletion of 3 amino acid(s) of the NPPA protein (p.Arg116_Leu118del), 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 not been reported in the literature in individuals with NPPA-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of the affected amino acid(s) 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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