ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.449C>T (p.Ala150Val) (rs113651985)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155334 SCV000205020 uncertain significance not specified 2019-01-04 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Ala150Val var iant in WFS1 has been reported in several individuals with sensorineural hearing loss and segregated in three affected family members; however, it has also iden tified in an unaffected family members and controls (Fukuoka 2018, Miyagawa 2013 , Noguchi, Qing 2014). This variant was also reported in 1 individual with MODY (Li 2016) and has also been identified in 0.28% (45/15702) of East Asian chromos omes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tool s and conservation analysis do not provide strong support for or against an impa ct to the protein. In summary, while the clinical significance of this variant i s uncertain, its frequency and identification in unaffected family members sugge sts it is more likely to be benign. ACMG/AMP Criteria applied: BS1_Supporting.
Invitae RCV000949462 SCV001095715 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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