ClinVar Miner

Submissions for variant NM_007375.4(TARDBP):c.869G>C (p.Gly290Ala)

dbSNP: rs121908395
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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 RCV001054737 SCV001219086 uncertain significance Amyotrophic lateral sclerosis type 10; TARDBP-related frontotemporal dementia 2019-03-25 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. This variant has been reported to affect TARDBP protein function (PMID: 19515851, 21123567). 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 is not present in population databases (ExAC no frequency). 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.
OMIM RCV000005542 SCV000025724 pathogenic Amyotrophic lateral sclerosis type 10 2008-05-01 no assertion criteria provided literature only

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