ClinVar Miner

Submissions for variant NM_002470.4(MYH3):c.5254G>T (p.Ala1752Ser)

dbSNP: rs34393601
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000874282 SCV001016435 benign not provided 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV000874282 SCV001868886 benign not provided 2020-02-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22519952)
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000874282 SCV001551702 uncertain significance not provided no assertion criteria provided clinical testing The MYH3 p.Ala1752Ser variant was not identified in the literature nor was it identified in the ClinVar, Cosmic, or LOVD 3.0 databases. The variant was identified in dbSNP (ID: rs34393601) and in control databases in 186 of 282568 chromosomes (1 homozygous) at a frequency of 0.000658 increasing the likelihood this could be a low frequency benign variant (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following populations: African in 175 of 24958 chromosomes (freq: 0.007012), Other in 3 of 7220 chromosomes (freq: 0.000416), Latino in 4 of 35406 chromosomes (freq: 0.000113) and European (non-Finnish) in 4 of 129022 chromosomes (freq: 0.000031), while the variant was not observed in the Ashkenazi Jewish, East Asian, European (Finnish), and South Asian populations. The p.Ala1752 residue is conserved across mammals and other organisms, and four out of five computational analyses (PolyPhen-2, SIFT, AlignGVGD, MutationTaster) suggest that the variant may impact the protein; however, this information is not predictive enough to assume pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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