ClinVar Miner

Submissions for variant NM_001128228.3(TPRN):c.1696C>T (p.Leu566Phe)

gnomAD frequency: 0.00001  dbSNP: rs201404168
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000913 SCV001158000 uncertain significance Autosomal recessive nonsyndromic hearing loss 79 2018-11-28 criteria provided, single submitter clinical testing The TPRN c.1696C>T; p.Leu566Phe variant (rs201404168), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the non-Finnish European population with an allele frequency of 0.0071% (8/112,546 alleles) in the Genome Aggregation Database. The leucine at codon 566 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Due to limited information, the clinical significance of the p.Leu566Phe variant is uncertain at this time.
Ambry Genetics RCV002550742 SCV003736381 uncertain significance Inborn genetic diseases 2022-11-21 criteria provided, single submitter clinical testing The c.1696C>T (p.L566F) alteration is located in exon 1 (coding exon 1) of the TPRN gene. This alteration results from a C to T substitution at nucleotide position 1696, causing the leucine (L) at amino acid position 566 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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