ClinVar Miner

Submissions for variant NM_012388.4(BLOC1S6):c.508A>G (p.Lys170Glu)

gnomAD frequency: 0.00001  dbSNP: rs760751818
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001913474 SCV002178312 uncertain significance Hermansky-Pudlak syndrome 9 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 170 of the BLOC1S6 protein (p.Lys170Glu). This variant is present in population databases (rs760751818, gnomAD 0.0009%). 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: 1409122). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV004042828 SCV004913102 uncertain significance Inborn genetic diseases 2023-11-28 criteria provided, single submitter clinical testing The c.508A>G (p.K170E) alteration is located in exon 5 (coding exon 5) of the BLOC1S6 gene. This alteration results from a A to G substitution at nucleotide position 508, causing the lysine (K) at amino acid position 170 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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