ClinVar Miner

Submissions for variant NM_012388.4(BLOC1S6):c.294G>T (p.Met98Ile)

gnomAD frequency: 0.00009  dbSNP: rs574333116
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625452 SCV000745413 likely benign Hermansky-Pudlak syndrome 9 2017-06-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000625452 SCV000829979 uncertain significance Hermansky-Pudlak syndrome 9 2024-10-22 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 98 of the BLOC1S6 protein (p.Met98Ile). This variant is present in population databases (rs574333116, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with BLOC1S6-related conditions. ClinVar contains an entry for this variant (Variation ID: 522345). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002531919 SCV003760662 uncertain significance Inborn genetic diseases 2021-07-06 criteria provided, single submitter clinical testing The c.294G>T (p.M98I) alteration is located in exon 3 (coding exon 3) of the BLOC1S6 gene. This alteration results from a G to T substitution at nucleotide position 294, causing the methionine (M) at amino acid position 98 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Clinical Genetics, Academic Medical Center RCV001701134 SCV001918915 likely benign not provided no assertion criteria provided clinical testing

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