Submissions for variant NM_016239.4(MYO15A):c.5060C>T (p.Pro1687Leu)

gnomAD frequency: 0.00087  dbSNP: rs58625281

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000598477	SCV000706027	uncertain significance	not provided	2017-02-21	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001000757	SCV001157808	uncertain significance	Autosomal recessive nonsyndromic hearing loss 3	2018-09-14	criteria provided, single submitter	clinical testing	The MYO15A c.5060C>T; p.Pro1687Leu variant (rs58625281), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 500192). This variant is found in the African population with an overall allele frequency of 0.27% (64/23,850 alleles) in the Genome Aggregation Database. The MYO15A at codon 1687 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Due to limited information, the clinical significance of the p.Pro1687Leu variant is uncertain at this time.
GeneDx	RCV000598477	SCV001765291	likely benign	not provided	2021-06-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000598477	SCV004277609	likely benign	not provided	2024-01-20	criteria provided, single submitter	clinical testing