ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.1732G>C (p.Val578Leu)

gnomAD frequency: 0.00010  dbSNP: rs144907002
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000582 SCV001157558 uncertain significance not specified 2018-10-15 criteria provided, single submitter clinical testing The OTOF c.1732G>C; p.Val578Leu variant (rs144907002), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the Finnish European population with an overall allele frequency of 0.05% (14/25760 alleles, including one homozygote) in the Genome Aggregation Database. The valine at codon 578 is weakly conserved, it occurs as a leucine in multiple vertebrate species, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. However, due to limited information, the clinical significance of the p.Val578Leu variant is uncertain at this time.
Illumina Laboratory Services, Illumina RCV001141873 SCV001302248 uncertain significance Autosomal recessive nonsyndromic hearing loss 9 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV001565723 SCV001789121 likely benign not provided 2020-12-07 criteria provided, single submitter clinical testing
Invitae RCV001565723 SCV003261957 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing

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