ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.8170G>A (p.Glu2724Lys)

gnomAD frequency: 0.00005  dbSNP: rs142465521
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Total submissions: 4
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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 RCV000151413 SCV000199426 uncertain significance not specified 2014-02-07 criteria provided, single submitter clinical testing The Glu2724Lys variant in MYO15A has not been previously reported in individuals with hearing loss or in large population studies. Computational analyses (bioc hemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. In summary, additional information is needed to fully assess the clinical significance of th is variant.
Fulgent Genetics, Fulgent Genetics RCV002478431 SCV002791858 uncertain significance Autosomal recessive nonsyndromic hearing loss 3 2021-09-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003764919 SCV004630765 likely benign not provided 2024-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004639147 SCV005140285 uncertain significance Inborn genetic diseases 2024-03-30 criteria provided, single submitter clinical testing The c.8170G>A (p.E2724K) alteration is located in exon 45 (coding exon 44) of the MYO15A gene. This alteration results from a G to A substitution at nucleotide position 8170, causing the glutamic acid (E) at amino acid position 2724 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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