ClinVar Miner

Submissions for variant NM_002295.6(RPSA):c.491A>T (p.Asn164Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV002789975 SCV003761250 uncertain significance Familial isolated congenital asplenia 2023-01-25 criteria provided, single submitter curation The heterozygous p.Asn164Ile variant in RPSA was identified by our study in one individual with isolated congenital asplenia. The p.Asn164Ile variant in RPSA has not been previously reported in individuals with isolated congenital asplenia. This variant was absent from large population studies. Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Asn164Ile variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting, PP3 (Richards 2015).

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