ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.205T>C (p.Tyr69His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004402189 SCV004882587 uncertain significance Inborn genetic diseases 2023-12-09 criteria provided, single submitter clinical testing The c.205T>C (p.Y69H) alteration is located in exon 4 (coding exon 2) of the HPS1 gene. This alteration results from a T to C substitution at nucleotide position 205, causing the tyrosine (Y) at amino acid position 69 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005038659 SCV005664156 uncertain significance Hermansky-Pudlak syndrome 1 2024-06-14 criteria provided, single submitter clinical testing

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