Submissions for variant NM_002470.4(MYH3):c.1986_1990del (p.Asn662fs)

dbSNP: rs771300756

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000599286	SCV000710189	uncertain significance	not provided	2020-12-03	criteria provided, single submitter	clinical testing	Observed as heterozygous variant in individual with spondylocarpotarsal synostosis syndrome; a second variant in MYH3 was not identified through whole exome sequencing, however whole genome sequencing was not available at the time of publication (Cameron-Christie et al., 2018); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is not a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 29805041)
Clinical Genetics Group, University of Otago	RCV000714985	SCV000845786	pathogenic	Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A; Spondylocarpotarsal synostosis syndrome	2018-04-09	criteria provided, single submitter	clinical testing
Provincial Medical Genetics Program of British Columbia, University of British Columbia	RCV002065186	SCV002496387	uncertain significance	Contractures, pterygia, and variable skeletal fusions syndrome 1B	2022-01-01	criteria provided, single submitter	clinical testing