ClinVar Miner

Submissions for variant NM_007375.4(TARDBP):c.1121A>T (p.Tyr374Phe)

dbSNP: rs1643661597
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001663537 SCV001880382 uncertain significance not provided 2021-02-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002539645 SCV003330835 uncertain significance Amyotrophic lateral sclerosis type 10; TARDBP-related frontotemporal dementia 2022-06-15 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1256195). This variant has not been reported in the literature in individuals affected with TARDBP-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 374 of the TARDBP protein (p.Tyr374Phe).

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