ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1234G>T (p.Val412Phe)

dbSNP: rs111033527
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329891 SCV001521447 uncertain significance Autosomal recessive nonsyndromic hearing loss 4 2019-09-30 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002546359 SCV002948534 uncertain significance not provided 2021-10-02 criteria provided, single submitter clinical testing This sequence change replaces valine with phenylalanine at codon 412 of the SLC26A4 protein (p.Val412Phe). The valine residue is highly conserved and there is a small physicochemical difference between valine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with deafness (Invitae). ClinVar contains an entry for this variant (Variation ID: 1028755). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SLC26A4 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV001329891 SCV004807210 likely pathogenic Autosomal recessive nonsyndromic hearing loss 4 2024-03-26 criteria provided, single submitter clinical testing
GeneDx RCV002546359 SCV005396488 likely pathogenic not provided 2024-05-09 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: Naddafnia2024[paper])

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