ClinVar Miner

Submissions for variant NM_022081.6(HPS4):c.1883G>A (p.Arg628His)

gnomAD frequency: 0.00257  dbSNP: rs78892693
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000379670 SCV000341486 benign not specified 2016-04-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000379670 SCV000595170 likely benign not specified 2016-01-26 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625205 SCV000744135 likely benign Hermansky-Pudlak syndrome 4 2017-06-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000896719 SCV001040826 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000625205 SCV001311920 likely benign Hermansky-Pudlak syndrome 4 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Ambry Genetics RCV003258729 SCV003946930 uncertain significance Inborn genetic diseases 2023-03-20 criteria provided, single submitter clinical testing The c.1883G>A (p.R628H) alteration is located in exon 13 (coding exon 12) of the HPS4 gene. This alteration results from a G to A substitution at nucleotide position 1883, causing the arginine (R) at amino acid position 628 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Clinical Genetics, Academic Medical Center RCV000379670 SCV001919523 benign not specified no assertion criteria provided clinical testing

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