ClinVar Miner

Submissions for variant NM_001122955.4(BSCL2):c.509_513del (p.Tyr170fs)

dbSNP: rs587777608
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001091624 SCV001247773 pathogenic not provided 2019-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005089168 SCV005835850 pathogenic Charcot-Marie-Tooth disease type 2 2024-11-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr106Cysfs*6) in the BSCL2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BSCL2 are known to be pathogenic (PMID: 11479539, 23564749). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with autosomal recessive BSCL2-related conditions (PMID: 11479539, 23564749). This variant is also known as 659delGTATC, F105fs, c.507_511del. ClinVar contains an entry for this variant (Variation ID: 4535). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000004793 SCV000024969 pathogenic Congenital generalized lipodystrophy type 2 2007-12-26 no assertion criteria provided literature only
OMIM RCV000133399 SCV000188472 pathogenic Severe neurodegenerative syndrome with lipodystrophy 2013-06-01 no assertion criteria provided literature only
GeneReviews RCV000004793 SCV000490132 not provided Congenital generalized lipodystrophy type 2 no assertion provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV003311638 SCV004011973 uncertain significance Berardinelli-Seip congenital lipodystrophy 2016-01-06 no assertion criteria provided literature only

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