ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.4486C>G (p.Gln1496Glu)

gnomAD frequency: 0.00001  dbSNP: rs141995460
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Total submissions: 2
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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 RCV000156544 SCV000206263 uncertain significance not specified 2014-06-05 criteria provided, single submitter clinical testing The Gln1496Glu variant in MYH14 has not been previously reported in individuals with hearing loss, but it has been identified in 0.52% (1/192) of Luhya (Kenya) chromosomes by the 1000 Genomes Project (dbSNP rs141995460). Although this varia nt has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational prediction tools and conservation anal yses suggest that the Gln1496Glu variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the Gln1496Glu variant is uncertain.
Ambry Genetics RCV003352783 SCV004057439 uncertain significance Inborn genetic diseases 2023-07-25 criteria provided, single submitter clinical testing The c.4363C>G (p.Q1455E) alteration is located in exon 31 (coding exon 30) of the MYH14 gene. This alteration results from a C to G substitution at nucleotide position 4363, causing the glutamine (Q) at amino acid position 1455 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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