ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.26653T>G (p.Ser8885Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV003228602 SCV003925184 uncertain significance Dilated cardiomyopathy 1G; Hypertrophic cardiomyopathy 9 2022-03-18 criteria provided, single submitter clinical testing The c.26653T>G (p. Ser8885Ala) missense variant in the TTN gene identified in exon 92 (of 363) has not been reported in affected individuals in the literature. The variant has 0.000006572 allele frequency in the gnomAD (v3.1.2) databases (1 out of 152150 heterozygous alleles, no homozygotes). The variant affects a moderately conserved residue (Ser8885) located in the Ig-like domain of I-Band region (PMID: 33996946, Refer Figure S4) of TTN protein. In silico tools provide conflicting predictions about the potential pathogenicity of this variant (CADD score = 22.4, REVEL score = 0.041). Based on the available evidence, the c.26653T>G (p. Ser8885Ala) missense variant identified in the TTN gene is reported as a Variant of UncertainSignificance.

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