ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.54A>G (p.Thr18=) (rs531947687)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics,Johns Hopkins University RCV000758241 SCV000886881 uncertain significance Hermansky-Pudlak syndrome 1 2019-02-06 criteria provided, single submitter clinical testing This HPS1 variant (rs531947687) is rare in large population datasets (gnomAD: 1/251494 total alleles; 0.0004%; no homozygotes), and has not been reported in ClinVar nor the literature, to our knowledge. Bioinformatic analysis predicts that this synonymous variant would not affect normal exon 3 splicing, although this has not been confirmed experimentally to our knowledge. The clinical significance of c.54A>G is uncertain at this time.

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