Submissions for variant NM_001080779.2(MYO1C):c.1241C>T (p.Thr414Ile)

gnomAD frequency: 0.00091  dbSNP: rs143802377

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000844153	SCV000986200	likely benign	not provided	2018-06-05	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics	RCV004029245	SCV003695913	uncertain significance	not specified	2021-06-18	criteria provided, single submitter	clinical testing	The c.1136C>T (p.T379I) alteration is located in exon 11 (coding exon 10) of the MYO1C gene. This alteration results from a C to T substitution at nucleotide position 1136, causing the threonine (T) at amino acid position 379 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences	RCV003955558	SCV004774176	likely benign	MYO1C-related disorder	2022-06-22	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).