ClinVar Miner

Submissions for variant NM_012388.4(BLOC1S6):c.350A>G (p.Asn117Ser)

gnomAD frequency: 0.00001  dbSNP: rs1230644464
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001875763 SCV002150994 uncertain significance Hermansky-Pudlak syndrome 9 2021-04-16 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with BLOC1S6-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with serine at codon 117 of the BLOC1S6 protein (p.Asn117Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine.

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