Submissions for variant NM_000260.4(MYO7A):c.736-3C>T

dbSNP: rs1555063792

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000669703	SCV000794480	uncertain significance	Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1	2017-09-26	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV004800525	SCV005423339	uncertain significance	not specified	2024-10-14	criteria provided, single submitter	clinical testing	Variant summary: MYO7A c.736-3C>T alters a conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The frequency data for this variant in gnomAD is considered unreliable, as metrics indicate poor data quality at this position. c.736-3C>T has been reported in the literature in individuals affected with Usher Syndrome. These report(s) do not provide unequivocal conclusions about association of the variant with Usher Syndrome. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 16963483, 8900236). ClinVar contains an entry for this variant (Variation ID: 554132). Based on the evidence outlined above, the variant was classified as uncertain significance.