ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.3304C>T (p.Arg1102Trp)

gnomAD frequency: 0.00011  dbSNP: rs397516629
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037040 SCV000060696 uncertain significance not specified 2013-02-02 criteria provided, single submitter clinical testing The Arg1102Trp variant in MYH14 has not been reported in the literature nor prev iously identified by our laboratory. Computational analyses (biochemical amino a cid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide str ong support for or against an impact to the protein. Additional data is needed t o determine the clinical significance of this variant.
Fulgent Genetics, Fulgent Genetics RCV002477089 SCV002777764 uncertain significance Autosomal dominant nonsyndromic hearing loss 4A; Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 2022-03-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002513455 SCV003298567 likely benign not provided 2024-10-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV004955267 SCV005453534 uncertain significance Inborn genetic diseases 2024-11-21 criteria provided, single submitter clinical testing The c.3181C>T (p.R1061W) alteration is located in exon 25 (coding exon 24) of the MYH14 gene. This alteration results from a C to T substitution at nucleotide position 3181, causing the arginine (R) at amino acid position 1061 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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