ClinVar Miner

Submissions for variant NM_004960.4(FUS):c.823C>T (p.His275Tyr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002958458 SCV003278405 uncertain significance Amyotrophic lateral sclerosis type 6; Tremor, hereditary essential, 4 2023-08-17 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 2065419). This variant has not been reported in the literature in individuals affected with FUS-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 275 of the FUS protein (p.His275Tyr).

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