ClinVar Miner

Submissions for variant NM_002473.6(MYH9):c.3676C>T (p.Arg1226Trp)

gnomAD frequency: 0.00006  dbSNP: rs375797448
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001576446 SCV001803641 uncertain significance not provided 2024-06-11 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30942463, 27527345)
Labcorp Genetics (formerly Invitae), Labcorp RCV001576446 SCV002298511 likely benign not provided 2025-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004039446 SCV004945376 uncertain significance Inborn genetic diseases 2023-11-22 criteria provided, single submitter clinical testing The c.3676C>T (p.R1226W) alteration is located in exon 28 (coding exon 27) of the MYH9 gene. This alteration results from a C to T substitution at nucleotide position 3676, causing the arginine (R) at amino acid position 1226 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004733365 SCV005356507 uncertain significance MYH9-related disorder 2024-04-15 no assertion criteria provided clinical testing The MYH9 c.3676C>T variant is predicted to result in the amino acid substitution p.Arg1226Trp. This variant was reported in an individual with cleft lip (Peng et al. 2016. PubMed ID: 27527345). This variant is reported in 0.040% of alleles in individuals of East Asian descent in gnomAD. Although we suspect this variant may be benign due to the relatively high allele frequency in the general population, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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