Submissions for variant NM_002471.3(MYH6):c.3604G>A (p.Val1202Met) (rs368451573)

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Total submissions: 6

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Clinical Services Laboratory,Illumina	RCV000335256	SCV000385651	uncertain significance	Hypertrophic cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000373519	SCV000385652	uncertain significance	Dilated Cardiomyopathy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000295361	SCV000385653	uncertain significance	Atrial septal defect	2016-06-14	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000506811	SCV000604363	uncertain significance	not provided	2017-05-05	criteria provided, single submitter	clinical testing	The p.Val1202Met variant (rs368451573) has not been reported in the medical literature or gene specific variation databases but has been reported to ClinVar (Variation ID:312860) This variant is listed in the NHLBI GO Exome Sequencing Project with an overall population frequency of 0.03 percent (identified on 4 out of 12,956 chromosomes) and is listed in the genome Aggregation Database with an overall population frequency of 0.017 percent (identified on 47 out of 272,478 chromosomes). The valine at position 1202 is highly conserved, up to Opossum (considering 5 species, Alamut v.2.9.0) and computational analyses of the effects of the p.Val1202Met variant on protein structure and function provide conflicting results (SIFT: tolerated, MutationTaster: disease causing, PolyPhen-2: probably damaging). Altogether, there is not enough evidence to classify the p.Val1202Met variant with certainty.
Invitae	RCV000647069	SCV000768856	uncertain significance	Familial hypertrophic cardiomyopathy 14	2017-10-23	criteria provided, single submitter	clinical testing	This sequence change replaces valine with methionine at codon 1202 of the MYH6 protein (p.Val1202Met). The valine residue is weakly conserved and there is a small physicochemical difference between valine and methionine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with MYH6-related disease. ClinVar contains an entry for this variant (Variation ID: 312860). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics,Fulgent Genetics	RCV000765149	SCV000896378	uncertain significance	Familial hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Familial hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to	2018-10-31	criteria provided, single submitter	clinical testing

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