ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.7826T>C (p.Phe2609Ser) (rs397516959)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038091 SCV000061757 uncertain significance not specified 2012-03-02 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Phe2609Ser vari ant (DSP) has not been reported in the literature nor previously identified by o ur laboratory. Phenylalanine (Phe) at position 2609 is not conserved in mammals (several other species carry a leucine), which suggests that a change at this p osition may not impact the protein. Additional computational analyses (biochemic al amino acid properties, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. Collectively, this information is not predictive enough to rule out pathogenicity. Although the lack of amino a cid conservation at this position suggests that the Phe2609Ser variant may be be nign, additional information is needed to fully assess its clinical significance .

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