ClinVar Miner

Submissions for variant NM_000371.4(TTR):c.337-14_337-11del

dbSNP: rs112263266
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Total submissions: 10
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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 RCV000155419 SCV000205109 benign not specified 2018-08-10 criteria provided, single submitter clinical testing The c.337-14_337-11del variant in TTR is classified as benign because it has bee n identified in 0.3% (86/24008) of African chromsomes by gnomAD (http://gnomad.b and is an intronic deletion of 1 of 2 GTCT tandem repeats tha t is not predicted to impact splicing. ACMG/AMP Criteria applied: BA1, BP4.
GeneDx RCV000159406 SCV000209352 benign Cardiomyopathy 2013-06-24 criteria provided, single submitter clinical testing The variant is found in HCM panel(s).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586853 SCV000696628 benign not provided 2017-04-03 criteria provided, single submitter clinical testing Variant summary: The TTR c.337-14_337-11delGTCT variant involves the deletion of multiple intronic nucleotides. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. This variant was found in 43/120050 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.003529 (36/10200). This frequency is about 113 times the estimated maximal expected allele frequency of a pathogenic TTR variant (0.0000313), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. One internally tested patient carries this variant and a pathogenic TTR variant (c.424G>A/p.Val142Ile), further supporting this variant is not associated with the disease. In addition, one clinical diagnostic laboratory classified this variant as benign. Taken together, this variant is classified as benign.
Athena Diagnostics RCV000155419 SCV001476394 benign not specified 2019-10-30 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000586853 SCV002049489 benign not provided 2022-04-22 criteria provided, single submitter clinical testing
Invitae RCV001374654 SCV002463676 benign Familial amyloid neuropathy 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002453514 SCV002615536 uncertain significance Cardiovascular phenotype 2019-08-26 criteria provided, single submitter clinical testing The c.337-14_337-11delGTCT intronic variant, located in intron 3 of the TTR gene, results from a deletion of 4 nucleotides within intron 3 of the TTR gene. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals RCV001374654 SCV001571579 likely benign Familial amyloid neuropathy 2021-01-06 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000155419 SCV001924218 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000586853 SCV001928416 likely benign not provided no assertion criteria provided clinical testing

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