ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.7313C>A (p.Ser2438Ter) (rs1558651680)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rare Disease Group, Clinical Genetics,Karolinska Institutet RCV000757979 SCV000804192 pathogenic Alstrom syndrome 2018-08-27 no assertion criteria provided research p.Ser2437* variant in ALMS1 introduces a stop-gain and ALMS1 is known to cause Alstrom syndrome. The patient's clinical findings fit well into this syndrome. Moreover segregation analysis confirms the autosomal recessive inheritance. In summary, this variant was classified as pathogenic based upon segregation studies and variant function.

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