ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.7069G>A (p.Gly2357Ser)

gnomAD frequency: 0.00034  dbSNP: rs201540919
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Total submissions: 5
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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 RCV000215439 SCV000270515 likely benign not specified 2015-05-17 criteria provided, single submitter clinical testing p.Gly2357Ser in exon 34 of MYO15A: This variant is not expected to have clinical significance because the glycine (Gly) residue at position 2357 is not conserve d through species, with 10 mammals having a serine (Ser) at this position. It ha s been identified in 14/104260 chromosomes by the Exome Aggregation Consortium ( ExAC, http://exac.broadinstitute.org; dbSNP rs201540919).
Eurofins Ntd Llc (ga) RCV000732203 SCV000860126 uncertain significance not provided 2018-03-27 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001286719 SCV001473333 likely benign Autosomal recessive nonsyndromic hearing loss 3 2019-09-12 criteria provided, single submitter clinical testing
Invitae RCV000732203 SCV001709010 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002519610 SCV003603275 uncertain significance Inborn genetic diseases 2022-12-21 criteria provided, single submitter clinical testing The c.7069G>A (p.G2357S) alteration is located in exon 34 (coding exon 33) of the MYO15A gene. This alteration results from a G to A substitution at nucleotide position 7069, causing the glycine (G) at amino acid position 2357 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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