ClinVar Miner

Submissions for variant NM_144991.3(TSPEAR):c.419C>A (p.Ala140Asp)

gnomAD frequency: 0.00034  dbSNP: rs147904376
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Total submissions: 4
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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 RCV000213346 SCV000272574 uncertain significance not specified 2015-06-10 criteria provided, single submitter clinical testing The p.Ala140Asp variant in TSPEAR has not been previously reported in individual s with hearing loss, but has been identified in 8/9402 of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP r s147904376). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational predi ction tools and conservation analysis suggest that the p.Ala140Asp variant may n ot impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the p.Ala140Asp vari ant is uncertain.
Eurofins Ntd Llc (ga) RCV000733590 SCV000861672 uncertain significance not provided 2018-06-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000733590 SCV004313565 likely benign not provided 2023-08-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV004020641 SCV004974258 uncertain significance Inborn genetic diseases 2024-01-09 criteria provided, single submitter clinical testing The c.419C>A (p.A140D) alteration is located in exon 3 (coding exon 3) of the TSPEAR gene. This alteration results from a C to A substitution at nucleotide position 419, causing the alanine (A) at amino acid position 140 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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