Submissions for variant NM_017433.5(MYO3A):c.2999G>A (p.Arg1000Gln)

gnomAD frequency: 0.00003  dbSNP: rs755548787

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001103994	SCV001260816	uncertain significance	Autosomal recessive nonsyndromic hearing loss 30	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx	RCV001760078	SCV001999215	uncertain significance	not provided	2024-10-31	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	RCV003992445	SCV004809885	uncertain significance	Hearing loss, autosomal dominant 90	2024-04-04	criteria provided, single submitter	clinical testing