ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.5981C>A (p.Thr1994Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003448777 SCV004176484 uncertain significance Autosomal dominant nonsyndromic hearing loss 4A 2023-03-01 criteria provided, single submitter clinical testing The missense variant c.5981C>A(p.Thr1994Asn) in MYH14 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Thr1994Asn variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant has not been reported to the ClinVar database. The amino acid change p.Thr1994Asn in MYH14 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Thr at position 1994 is changed to a Asn changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Uncertain Significance (VUS).

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