ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.9392C>T (p.Ser3131Phe)

gnomAD frequency: 0.00001  dbSNP: rs144588413
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667603 SCV000792081 uncertain significance Alstrom syndrome 2017-06-21 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001328389 SCV001519512 uncertain significance not specified 2021-03-01 criteria provided, single submitter clinical testing Variant summary: ALMS1 c.9389C>T (p.Ser3130Phe, also known as c.9395C>T) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 249454 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.9389C>T in individuals affected with Alstrom Syndrome With Dilated Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. One laboratory classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Invitae RCV000667603 SCV002219330 uncertain significance Alstrom syndrome 2023-12-22 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 3132 of the ALMS1 protein (p.Ser3132Phe). This variant is present in population databases (rs144588413, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with ALMS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 552360). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV000667603 SCV002792082 uncertain significance Alstrom syndrome 2021-12-01 criteria provided, single submitter clinical testing

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