ClinVar Miner

Submissions for variant NM_007375.3(TARDBP):c.869G>C (p.Gly290Ala) (rs121908395)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001054737 SCV001219086 uncertain significance Amyotrophic lateral sclerosis type 10; TARDBP-related frontotemporal dementia 2019-03-27 criteria provided, single submitter clinical testing This sequence change replaces glycine with alanine at codon 290 of the TARDBP protein (p.Gly290Ala). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and alanine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in a family affected with amyotrophic lateral sclerosis (PMID: 18396105). ClinVar contains an entry for this variant (Variation ID: 5231). This variant has been reported to affect TARDBP protein function (PMID: 19515851, 21123567). 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.
OMIM RCV000005542 SCV000025724 pathogenic Amyotrophic lateral sclerosis type 10 2008-05-01 no assertion criteria provided literature only

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