ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.73743C>A (p.Asp24581Glu)

dbSNP: rs727504603
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155850 SCV000205561 likely benign not specified 2013-06-14 criteria provided, single submitter clinical testing Asp22013Glu in exon 275 of TTN: This variant is not expected to have clinical si gnificance due to a lack of conservation across species, including mammals. Of n ote, bushbaby, kangaroo rat, and hedgehog have a glutamic acid (Glu) at this pos ition despite high nearby amino acid conservation. In addition, computational an alyses (AlignGVGD, PolyPhen2, SIFT) do not suggest a high likelihood of impact t o the protein.

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