ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.4219C>T (p.Arg1407Cys)

gnomAD frequency: 0.00006  dbSNP: rs535145284
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757520 SCV000885774 uncertain significance not provided 2023-11-29 criteria provided, single submitter clinical testing
GeneDx RCV000757520 SCV001785231 uncertain significance not provided 2021-02-02 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV003243293 SCV003940149 uncertain significance Inborn genetic diseases 2023-04-19 criteria provided, single submitter clinical testing The c.4096C>T (p.R1366C) alteration is located in exon 30 (coding exon 29) of the MYH14 gene. This alteration results from a C to T substitution at nucleotide position 4096, causing the arginine (R) at amino acid position 1366 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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