ClinVar Miner

Submissions for variant NM_012388.4(BLOC1S6):c.315T>G (p.Phe105Leu)

gnomAD frequency: 0.00003  dbSNP: rs759539185
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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 RCV001345502 SCV001539625 uncertain significance Hermansky-Pudlak syndrome 9 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 105 of the BLOC1S6 protein (p.Phe105Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is present in population databases (rs759539185, ExAC 0.08%). This variant has not been reported in the literature in individuals affected with BLOC1S6-related conditions. 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: "Possibly Damaging"; Align-GVGD: "Class C15"). 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 RCV003284236 SCV003991172 uncertain significance Inborn genetic diseases 2023-06-07 criteria provided, single submitter clinical testing The c.315T>G (p.F105L) alteration is located in exon 4 (coding exon 4) of the BLOC1S6 gene. This alteration results from a T to G substitution at nucleotide position 315, causing the phenylalanine (F) at amino acid position 105 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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