ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.2001_2003delinsCCC (p.Leu668Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004527060 SCV005039145 likely pathogenic Hermansky-Pudlak syndrome 2024-03-25 criteria provided, single submitter clinical testing Variant summary: HPS1 c.2001_2003delinsCCC (p.Leu668Pro) results in a non-conservative amino acid change located in the FUZ/MON1/HPS1, third Longin domain (IPR043970) of the encoded protein sequence. Three of four in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 248842 control chromosomes (gnomAD). To our knowledge, no occurrence of c.2001_2003delinsCCC in individuals affected with Hermansky-Pudlak Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. However, another variant (c.2003T>C) resulting in the same amino acid change has been determined to be pathogenic. No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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