ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.54883C>T (p.Pro18295Ser)

gnomAD frequency: 0.00001  dbSNP: rs1162176452
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001052872 SCV001217106 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-07-08 criteria provided, single submitter clinical testing This variant is located in the A band of TTN (PMID: 25589632). Variants in this region may be relevant for cardiac or neuromuscular disorders (PMID: 25589632, 23975875). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 18295 of the TTN protein (p.Pro18295Ser). This variant is present in population databases (no rsID available, gnomAD 0.007%). This missense change has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 28771489). ClinVar contains an entry for this variant (Variation ID: 848997). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Fulgent Genetics, Fulgent Genetics RCV002481971 SCV002787953 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-09-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003141984 SCV003819123 uncertain significance not provided 2020-09-21 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003994198 SCV004813384 uncertain significance not specified 2024-02-13 criteria provided, single submitter clinical testing Variant summary: TTN c.47179C>T (p.Pro15727Ser) results in a non-conservative amino acid change located in the A-band region of the encoded protein sequence. Two of three in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 5.2e-06 in 769986 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.47179C>T has been reported in the literature in an individual affected with hypertrophic cardiomyopathy (Mademont-Soler_2017). These report(s) do not provide unequivocal conclusions about association of the variant with Limb-Girdle Muscular Dystrophy, Type 2J. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication have been ascertained in the context of this evaluation (PMID: 28771489). ClinVar contains an entry for this variant (Variation ID: 848997). Based on the evidence outlined above, the variant was classified as uncertain significance.

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