ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.44848G>A (p.Asp14950Asn)

gnomAD frequency: 0.00006  dbSNP: rs571524382
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000464001 SCV000542609 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2018-01-15 criteria provided, single submitter clinical testing
GeneDx RCV001571115 SCV001795530 likely benign not provided 2019-06-07 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001571115 SCV003819193 uncertain significance not provided 2019-06-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004735532 SCV005363020 uncertain significance TTN-related disorder 2024-04-09 no assertion criteria provided clinical testing The TTN c.44848G>A variant is predicted to result in the amino acid substitution p.Asp14950Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0087% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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