Submissions for variant NM_016239.4(MYO15A):c.7655-7C>G

gnomAD frequency: 0.00211  dbSNP: rs191171943

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000598704	SCV000710548	uncertain significance	not specified	2018-02-19	criteria provided, single submitter	clinical testing	The c.7655-7 C>G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is observed in 162/24020 (0.674%) alleles from individuals of African background in large population cohorts (Lek et al., 2016). Several in silico splice prediction models predict that c.7655-7 C>G damages the natural splice acceptor site and leads to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000598704	SCV000711135	benign	not specified	2017-01-25	criteria provided, single submitter	clinical testing	c.7655-7C>G in intron 39 of MYO15A: This variant is not expected to have clinica l significance because it has been identified in 0.6% (59/9796) of African chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs191171943).
Labcorp Genetics (formerly Invitae), Labcorp	RCV002532700	SCV003264994	benign	not provided	2024-01-19	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003117371	SCV003800260	likely benign	Autosomal recessive nonsyndromic hearing loss 3	2022-07-15	criteria provided, single submitter	clinical testing